The Genetics of Soft Connective Tissue Disorders

Annual Review of Genomics and Human Genetics

Volumn 16, Issue , 2015, Pages 229-255

  Vanakker, Olivier ^a   Callewaert, Bert ^a   Malfait, Fransiska ^a   Coucke, Paul ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Cutis laxa; Ehlers Danlos syndrome; Gene discovery; Next generation sequencing; Pseudoxanthoma elasticum

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 3; COLLAGEN TYPE 4; COLLAGEN TYPE 5; COLLAGEN TYPE 6; COLLAGEN TYPE 7; ELASTIN; ELASTIN MODIFYING ENZYME; MULTIDRUG RESISTANCE ASSOCIATED PROTEIN 6; PROTEOGLYCAN; PYROPHOSPHATE; TENASCIN; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG; ZINC TRANSPORTER; ZINC TRANSPORTER 13;

ARTICLE; BIOSYNTHESIS; CELL MIGRATION; CONNECTIVE TISSUE; CONNECTIVE TISSUE DISEASE; CUTIS LAXA; EHLERS DANLOS SYNDROME; EXTRACELLULAR MATRIX; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETICS; HUMAN; METABOLISM; MOLECULAR BIOLOGY; MONOGENIC DISORDER; NEXT GENERATION SEQUENCING; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PROTEIN DEFECT; PSEUDOXANTHOMA ELASTICUM; SIGNAL TRANSDUCTION; CONNECTIVE TISSUE DISEASES; HIGH THROUGHPUT SEQUENCING; PATHOLOGY; PROCEDURES;

CONNECTIVE TISSUE DISEASES; CUTIS LAXA; EHLERS-DANLOS SYNDROME; EXTRACELLULAR MATRIX; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PSEUDOXANTHOMA ELASTICUM;

EID: 84940648144     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-090314-050039     Document Type: Article

References (148)

1. Auer-Grumbach M, WegerM, Fink-Puches R, Papic L, Frohlich E, et al. 2011. Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain 134:1839-52
2. Baldwin AK, Simpson A, Steer R, Cain SA, Kielty CM. 2013. Elastic fibres in health and disease. Expert Rev. Mol. Med. 15:e8
3. Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, et al. 2009. RIN2 deficiency results inmacrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.Am. J. Hum. Genet. 85:254-63
4. BaumannM, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, et al. 2012. Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am. J. Hum. Genet. 90:201-16
5. Baumgartner MR, Hu CA, Almashanu S, Steel G. 2000. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding -1-pyrroline-5-carboxylate synthase. Hum. Mol. Genet. 9:2853-58
6. Bedell VM,Wang Y, Campbell JM, Poshusta TL, Starker CG, et al. 2012. In vivo genome editing using a high-efficiency TALEN system. Nature 491:114-18
7. Beighton P, De Paepe A, Hall JG, Hollister DW, Pope FM, et al. 1992. Molecular nosology of heritable disorders of connective tissue. Am. J. Med. Genet. 42:431-48
8. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. 1998. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am. J. Med. Genet. 77:31-37
9. Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw MA, Robertson SP. 2008. A missense mutation in ALDH18A1, encoding -1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur. J. Hum. Genet. 16:1176-86
10. Birk DE. 2001. Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly. Micron 32:223-37
11. Birk DE, Fitch JM, Babiarz JP, Doane KJ, Linsenmayer TF. 1990. Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter. J. Cell Sci. 95:649-57
12. Bönnemann CG. 2011. The collagen VI-related myopathies: muscle meets its matrix. Nat. Rev. Neurol. 7:379-90
13. Brampton C, Yamaguchi Y, Vanakker O, Van Laer L, Chen L-H, et al. 2011. VitaminKdoes not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum. Cell Cycle 10:1810-20
14. Brandsma CA, van den Berge M, Postma DS, Jonker MR, Brouwer S, et al. 2015. A large lung gene expression study identifying fibulin-5 as a novel player in tissue repair in COPD. Thorax 70:21-32
15. Brooke BS, Habashi JP, Judge DP. 2008. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N. Engl. J. Med. 358:2787-95
16. Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, et al. 1997. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat. Genet. 17:104-8
17. Byers PH, Murray ML. 2014. Ehlers-Danlos syndrome: a showcase of conditions that lead to understanding matrix biology. Matrix Biol. 33:10-15
18. Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, et al. 2005. Mutations near amino end of α1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. J. Biol. Chem. 280:19259-69
19. Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, et al. 2007. Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. Hum. Mutat. 28:396-405
20. Callewaert BL, Renard M, Hucthagowder V, Albrecht B, Hausser I, et al. 2011. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum. Mutat. 32:445-55
21. Callewaert BL, Su C-T, Van Damme T, Vlummens P, Malfait F, et al. 2013. Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum. Mutat. 34:111-21
22. Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, et al. 2008. Arterial tortuosity syndrome: clinical andmolecular findings in 12 newly identified families. Hum. Mutat. 29:150-58
23. Christiano AM, Uitto J. 1994. Molecular pathology of the elastic fibers. J. Investig. Dermatol. 103:53S-57S
24. Cohn RD, van Erp C. 2007. Angiotensin II type 1 receptor blockade attenuates TGF-β-induced failure of muscle regeneration in multiple myopathic states. Nat. Med. 13:204-10
25. Colige A, Sieron AL, Li SW, Schwarze U, Petty E, et al. 1999. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am. J. Hum. Genet. 65:308-17
26. Costrop LM, Vanakker OM, Van Laer L, Le Saux O, Martin L, et al. 2010. Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. J. Hum. Genet. 55:112-17
27. Dabovic B, Robertson IB, Zilberberg L, Vassallo M, Davis EC, Rifkin DB. 2014. Function of latent TGFβbinding protein 4 and fibulin 5 in elastogenesis and lung development. J. Cell. Physiol. 230:226-36
28. Davis EE, Frangakis S, Katsanis N. 2014. Interpreting human genetic variation with in vivo zebrafish assays. Biochim. Biophys. Acta 1842:1960-70
29. De Paepe A, Malfait F. 2012. The Ehlers-Danlos syndrome, a disorder with many faces. Clin. Genet. 82:1-11
30. de Vega S, IwamotoT, Yamada Y. 2009. Fibulins: multiple roles inmatrix structures and tissue functions. Cell. Mol. Life Sci. 66:1890-902
31. Faiyaz-Ul-Haque M, Zaidi SHE, Al-Ali M, Al-Mureikhi MS, Kennedy S, et al. 2004. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Am. J. Med. Genet. A 128A:39-45
32. Fischer B. 2012. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum. Genet. 131:1761-73
33. Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, et al. 2014. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Mol. Genet. Metab. 112:310-16
34. Flanigan KM, Ceco E, Lamar K-M, Kaminoh Y, Dunn DM, et al. 2013. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann. Neurol. 73:481-88
35. Gensure RC, Mäkitie O, Barclay C, Chan C, DePalma SR, et al. 2005. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J. Clin. Investig. 115:1250-57
36. Giunta C, Elçioglu NH, Albrecht B, Eich G, Chambaz C, et al. 2008. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome-an autosomal-recessive entity caused bymutations in the zinc transporter gene SLC39A13. Am. J. Hum. Genet. 82:1290-305
37. Gordon MK, Hahn RA. 2010. Collagens. Cell Tissue Res. 339:247-57
38. Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, et al. 2006. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312:117-21
39. Hadj-Rabia S, Callewaert BL, Bourrat E, Kempers M, Plomp AS, et al. 2013. Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. Orphanet J. Rare Dis. 8:36
40. Hautala T, Heikkinen J, Kivirikko KI,Myllylä R. 1993. A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics 15:399-404
41. Hendig D, Arndt M, Szliska C, Kleesiek K, Gotting C. 2007. SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum. Clin. Chem. 53:829-36
42. Hennies HC. 2008. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat. Genet. 40:1410-12
43. Hernández A, Aguirre-Negrete MG, González-Flores S, Reynoso-Luna MC, Fragoso R, et al. 1986. Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome. Clin. Genet. 30:456-61
44. Hersh CP, Demeo DL, Lazarus R, Celedón JC, Raby BA, et al. 2006. Genetic association analysis of functional impairment in chronic obstructive pulmonary disease.Am. J. Respir. Crit.CareMed. 173:977-84
45. Hornstrup LS, Tybjærg-Hansen A, HaaseCL, Nordestgaard BG, SillesenH, et al. 2011. Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease. Circ. Cardiovasc. Genet. 4:534-41
46. Hosen MJ, Coucke PJ, Le Saux O, De Paepe A, Vanakker OM. 2014. Perturbation of specific promineralizing signalling pathways in human andmurine pseudoxanthoma elasticum. Orphanet J. Rare Dis. 9:66
47. Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, et al. 2015. Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum. J. Investig. Dermatol. 135:992-98
48. Hosen MJ, Zubaer A, Thapa S, Khadka B, De Paepe A, Vanakker OM. 2014. Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter. PLOS ONE 9:e10 2779
49. Hovnanian A. 2010. Modifier genes in pseudoxanthoma elasticum: novel insights from the Ggcx mouse model. J. Mol. Med. 88:149-53
50. Hu Q, Reymond J-L, Pinel N, Zabot M-T, Urban Z. 2006. Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. J. Investig. Dermatol. 126:283-90
51. Hubmacher D, TiedemannK,ReinhardtDP. 2006. Fibrillins: from biogenesis ofmicrofibrils to signaling functions. Curr. Top. Dev. Biol. 75:93-123
52. Hucthagowder V. 2009. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum. Mol. Genet. 18:2149-65
53. Hucthagowder V, SausgruberN, Kim KH, Angle B, Marmorstein LY, Urban Z. 2006. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am. J. Hum. Genet. 78:1075-80
54. Hwang WY, Fu Y, Reyon D, Maeder ML, Tsai SQ, et al. 2013. Efficient genome editing in zebrafish using a CRISPR-Cas system. Nat. Biotechnol. 31:227-29
55. Janecke AR, Baenziger JU, Müller T, Dündar M. 2011. Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfatedeficient adducted thumb-clubfoot syndrome." Hum. Mutat. 32:484-85
56. Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, et al. 2014. ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report. Arterioscler. Thromb. Vasc. Biol. 34:1985-89
57. Jeong J, Walker JM, Wang F, Park JG, Palmer AE, et al. 2012. Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome. PNAS 109:E3530-38
58. Jiang Q, Uitto J. 2006. Pseudoxanthoma elasticum: a metabolic disease? J. Investig. Dermatol. 126:1440-41
59. Kaler SG. 2011. ATP7A-related copper transport diseases-emerging concepts and future trends. Nat. Rev. Neurol. 7:15-29
60. Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, et al. 1994. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat. Genet. 8:195-202
61. Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, et al. 2014. Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. J. Investig. Dermatol. 134:2331-38
62. Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JFB, et al. 2010. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am. J. Hum. Genet. 86:343-52
63. Kielty CM. 2006. Elastic fibres in health and disease. Expert Rev. Mol. Med. 8:1-23
64. Kielty CM, Sherratt MJ,Marson A, BaldockC. 2005. Fibrillin microfibrils. Adv. Protein Chem. 70:405-36
65. Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G. 2008. De Barsy syndrome: a review of the phenotype. Clin. Dysmorphol. 17:99-107
66. Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, et al. 2008. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat. Genet. 40:32-34
67. Kosho T. 2013. Discovery and delineation of dermatan 4-O-sulfotransferase-1 (D4ST1)-deficient Ehlers-Danlos syndrome. In Current Genetics in Dermatology, ed.NOiso, chap.6. Rijeka, Croat.: InTech
68. Krane SM, Pinnell SR, Erbe RW. 1972. Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. PNAS 69:2899-903
69. Krishnan N, Dickman MB, Becker DF. 2008. Proline modulates the intracellular redox environment and protects mammalian cells against oxidative stress. Free Radic. Biol. Med. 44:671-81
70. Kuzaj P, Kuhn J, Dabisch-Ruthe M, Faust I, Gotting C, et al. 2014. ABCC6-A new player in cellular cholesterol and lipoprotein metabolism? Lipids Health Dis. 13:118
71. Kuzaj P, Kuhn J, Michalek RD, Karoly ED, Faust I, et al. 2014. Large-scaled metabolic profiling of human dermal fibroblasts derived from pseudoxanthoma elasticum patients and healthy controls. PLOS ONE 9:e108336
72. Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, et al. 2014. Atenolol versus losartan in children and young adults with Marfan's syndrome. N. Engl. J. Med. 371:2061-71
73. Lau WL, Liu S, Vaziri ND. 2014. Chronic kidney disease results in deficiency of ABCC6, the novel inhibitor of vascular calcification. Am. J. Nephrol. 40:51-55
74. Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, et al. 2001. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am. J. Hum. Genet. 69:749-64
75. Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, et al. 2000. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat. Genet. 25:223-27
76. Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, et al. 2009. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J. Investig.Dermatol. 129:553-63
77. LindsayME, Schepers D, Bolar NA,Doyle JJ, Gallo E, et al. 2012. Loss-of-functionmutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat. Genet. 44:922-27
78. Linsenmayer TF, Gibney E, Igoe F, Gordon MK, Fitch JM, et al. 1993. Type V collagen: molecular structure and fibrillar organization of the chicken α1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesis. J. Cell Biol. 121:1181-89
79. Loeys BL, Chen J,Neptune ER, Judge DP, PodowskiM, et al. 2005. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 37:275-81
80. Loeys BL, Van MaldergemL,Mortier G, Coucke P, Gerniers S, et al. 2002. Homozygosity for amissense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum. Mol. Genet. 11:2113-18
81. Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. 2005. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum. Mutat. 25:28-37
82. Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, et al. 2004. The natural history, including orofacial features of three patientswithEhlers-Danlos syndrome, dermatosparaxis type (EDStypeVIIC). Am. J. Med. Genet. A 131:18-28
83. Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, et al. 2013. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. Am. J. Hum. Genet. 92:935-45
84. Malfait F, Symoens S, De Backer J, Hermanns-Le T, Sakalihasan N, et al. 2007. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndromewith a propensity to arterial rupture in early adulthood. Hum. Mutat. 28:387-95
85. Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, et al. 2010. Musculocontractural Ehlers-Danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. Hum. Mutat. 31:1233-39
86. Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, et al. 2003. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am. J. Hum. Genet. 72:998-1004
87. McKusick VA. 1956. Heritable Disorders of Connective Tissue. St. Louis, MO: Mosby
88. Meng X, Noyes MB, Zhu LJ, Lawson ND, Wolfe SA. 2008. Targeted gene inactivation in zebrafish using engineered zinc-finger nucleases. Nat. Biotechnol. 26:695-701
89. Minamitani T, Ariga H, Matsumoto K-I. 2004. Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen. Exp. Cell Res. 297:49-60
90. Miyake N, Kosho T,Mizumoto S, Furuichi T, Hatamochi A, et al. 2010. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum. Mutat. 31:966-74
91. MüllerT,Mizumoto S, Suresh I, Komatsu Y,Vodopiutz J, et al. 2013. Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. Hum. Mol. Genet. 22:3761-72
92. Myllyharju J, Kivirikko KI. 2001. Collagens and collagen-related diseases. Ann. Med. 33:7-21
93. Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, et al. 2013. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am. J. Hum. Genet. 92:927-34
94. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, et al. 2003. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nat. Genet. 33:407-11
95. Nitschke Y, Baujat G, Botschen U, Wittkampf T, Moulin du M, et al. 2012. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused bymutations in either ENPP1 or ABCC6. Am. J. Hum. Genet. 90:25-39
96. Nonaka R, Sato F, Wachi H. 2014. Domain 36 of tropoelastin in elastic fiber formation. Biol. Pharm. Bull. 37:698-702
97. Okajima T, Fukumoto S, Furukawa K, Urano T. 1999. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. J. Biol. Chem. 274:28841-44
98. PapkeCL, Yanagisawa H. 2014. Fibulin-4 and fibulin-5 in elastogenesis and beyond: insights frommouse and human studies. Matrix Biol. 37:142-49
99. Pasquali-Ronchetti I, Garcia-FernandezMI, Boraldi F, Quaglino D, Gheduzzi D, et al. 2006. Oxidative stress in fibroblasts from patients with pseudoxanthoma elasticum: possible role in the pathogenesis of clinical manifestations. J. Pathol. 208:54-61
100. Pénisson-Besnier I, AllamandV, Beurrier P, Martin L, Schalkwijk J, et al. 2013. Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscul. Disord. 23:664-69
101. PepinMG, Byers PH. 2011. Ehlers-Danlos syndrome type IV. In GeneReviews, ed. RA Pagon,MP Adam, HH Ardinger, TD Bird, CR Dolan, et al. Seattle: Univ.Wash. http://www.ncbi.nlm.nih.gov/books/ NBK1494
102. PepinMG, Schwarze U, Superti Furga A, Byers PH. 2000. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N. Engl. J. Med. 342:673-80
103. Petris MJ, Strausak D, Mercer J. 2000. The Menkes copper transporter is required for the activation of tyrosinase. Hum. Mol. Genet. 9:2845-51
104. Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, et al. 2007. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J. Med. Genet. 44:621-28
105. Pinnell SR, Krane SM, Kenzora JE, Glimcher MJ. 1972. A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. N. Engl. J. Med. 286:1013-20
106. Pomozi V, Le Saux O, Brampton C, Apana A, Iliás A, et al. 2013. ABCC6 is a basolateral plasma membrane protein. Circ. Res. 112:e148-51
107. Quentin E, Gladen A, Rodén L, Kresse H. 1990. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. PNAS 87:1342-46
108. Ramirez F, Sakai LY, Rifkin DB, DietzHC. 2007. Extracellular microfibrils in development and disease. Cell. Mol. Life Sci. 64:2437-46
109. Renard M, Holm T, Veith R, Callewaert BL, Ades LC, et al. 2010. Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur. J. Hum. Genet. 18:895-901
110. Reversade B, Escande-BeillardN, Dimopoulou A, Fischer B, Chng SC, et al. 2009. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat. Genet. 41:1016-21
111. Ross JM,McIntire LV, Moake JL, KuoHJ, Qian RQ, et al. 1998. Fibrillin containing elasticmicrofibrils support platelet adhesion under dynamic shear conditions. Thromb. Haemost. 79:155-61
112. Sandri C, Caccavari F, Valdembri D, Camillo C, Veltel S, et al. 2012. The R-Ras/RIN2/Rab5 complex controls endothelial cell adhesion and morphogenesis via active integrin endocytosis and Rac signaling. Cell Res. 22:1479-501
113. Schalkwijk J, ZweersMC, Steijlen PM, Dean WB, Taylor G, et al. 2001. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N. Engl. J. Med. 345:1167-75
114. Schön S, Schulz V, Prante C, Hendig D, Szliska C, et al. 2006. Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. J. Med. Genet. 43:745-49
115. Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH. 2000. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am. J. Hum. Genet. 66:1757-65
116. Schwarze U, Hata R-I, McKusick VA, Shinkai H, Hoyme HE, et al. 2004. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am. J. Hum. Genet. 74:917-30
117. Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, et al. 2011. Delineation of dermatan 4-Osulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients. Am. J. Med. Genet. A 155A:1949-58
118. Shoulders MD, Raines RT. 2009. Collagen structure and stability. Annu. Rev. Biochem. 78:929-58
119. Sowa A-K, Kaiser FJ, Eckhold J, Kessler T, Aherrahrou R, et al. 2013. Functional interaction of osteogenic transcription factors Runx2 and Vdr in transcriptional regulation of Opn during soft tissue calcification. Am. J. Pathol. 183:66-68
120. Steinmann B, Gitzelmann R, Vogel A, Grant ME, Harwood R, Sear CH. 1975. Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. Helv. Paediatr. Acta 30:255-74
121. Steinmann B, Tuderman L, Peltonen L, Martin GR, McKusick VA, Prockop DJ. 1980. Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J. Biol. Chem. 255:8887-93
122. Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, et al. 2004. Missense variations in the fibulin 5 gene and age-related macular degeneration. N. Engl. J. Med. 351:346-53
123. Sweatt A, Sane DC, Hutson SM, Wallin R. 2003. Matrix Gla protein (MGP) and bone morphogenetic protein-2 in aortic calcified lesions of aging rats. J. Thromb. Haemost. 1:178-85
124. Symoens S,RenardM, Bonod-Bidaud C, SyxD, Vaganay E, et al. 2011. Identification of binding partners interacting with the α1-N-propeptide of type V collagen. Biochem. J. 433:371-81
125. Symoens S, Syx D, Malfait F, Callewaert BL, De Backer J, et al. 2012. Comprehensivemolecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum. Mutat. 33:1485-93
126. Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns-Le T, et al. 2010. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Hum. Genet. 128:79-88
127. Todorovic V, Rifkin DB. 2012. LTBPs, more than just an escort service. J. Cell. Biochem. 113:410-18
128. Tsipouras P, Byers PH, Schwartz RC, Chu ML,Weil D, et al. 1986. Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum. Genet. 74:41-46
129. Urbán Z, Hucthagowder V, Sch ürmann N, Todorovic V, Zilberberg L et al. 2009. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am. J. Hum. Genet. 85:593-605
130. Urbán Z, Riazi S, Seidl TL, Katahira J, Smoot LB, et al. 2002. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis andWilliams-Beuren syndrome. Am. J. Hum. Genet. 71:30-44
131. van de Laar IMBH, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, et al. 2011. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat. Genet. 43:121-26
132. VanakkerOM, Leroy BP, Coucke P, Bercovitch LG,Uitto J, et al. 2008. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum. Mutat. 29:205
133. VanakkerOM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ,De Paepe A. 2011. Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders? Am. J. Med. Genet. 155:2855-59
134. VanakkerOM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, et al. 2007. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J. Investig. Dermatol. 127:581-87
135. Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Costrop L, et al. 2010. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome. Lab. Investig. 90:895-905
136. Veit G, Hansen U, Keene DR, Bruckner P, Chiquet-Ehrismann R, et al. 2006. Collagen XII interacts with avian tenascin-X through its NC3 domain. J. Biol. Chem. 281:27461-70
137. Wang Z, Yang Z, He X, Tu J. 2009. Aggrecanases gene inhibition in chondrocytes: a new possible strategy to relieve immune rejection of transplants. Med. Hypotheses 72:196-98
138. Watzka M, Geisen C, Scheer M, Wieland R, Wiegering V, et al. 2014. Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations. Thromb. Res. 134:856-65
139. Wempe F, De-Zolt S, Koli K, Bangsow T, Parajuli N, et al. 2010. Inactivation of sestrin 2 induces TGF-βsignaling and partially rescues pulmonary emphysema in a mouse model of COPD. Dis. Models Mech. 3:246-53
140. Wenstrup RJ, Florer JB, WillingMC, Giunta C, Steinmann B, et al. 2000. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am. J. Hum. Genet. 66:1766-76
141. Werneck CC, Vicente CP, Weinberg JS, Shifren A, Pierce RA, et al. 2008. Mice lacking the extracellular matrix proteinMAGP1 display delayed thrombotic occlusion following vessel injury. Blood 111:4137-44
142. Willaert A, Khatri S, Callewaert BL, Coucke PJ, Crosby SD, et al. 2012. GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβsignaling. Hum. Mol. Genet. 21:1248-59
143. Wu X, Steet RA, Bohorov O, Bakker J, Newell J, et al. 2004. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat. Med. 10:518-23
144. Zarbock R, Hendig D, Szliska C, Kleesiek K, Gotting C. 2009. Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum. Hum. Mol. Genet. 18:3344-51
145. Zarbock R, Hendig D, Szliska C, Kleesiek K, Gotting C. 2010. Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elasticum. Clin. Chim. Acta 411:1487-90
146. Zhang MC, He L, Giro M, Yong SL, Tiller GE, Davidson JM. 1999. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J. Biol. Chem. 274:981-86
147. Ziegler SG, Ferreira CR, Pinkerton AB, Millan JL, GahlWA, Dietz HC. 2014. Novel insights regarding the pathogenesis and treatment of pseudoxanthoma elasticum. Presented at Am. Soc. Hum. Genet. Meet., San Diego, CA, Oct. 18-22
148. Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, et al. 2014. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum. Mol. Genet. 23:2339-52