Progress in molecular genetics of heritable skin diseases: The paradigms of epidermolysis bullosa and pseudoxanthoma elasticum

Journal of Investigative Dermatology Symposium Proceedings

Volumn 7, Issue 1, 2002, Pages 6-16

  Uitto, Jouni ^a   Pulkkinen, Leena ^a   Ringpfeil, Franziska ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Epidermolysis bullosa; Genodermatoses; Pseudoxanthoma elasticum

Indexed keywords

CONFERENCE PAPER; DYSKERATOSIS; EPIDERMOLYSIS BULLOSA; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; GENODERMATOSIS; HAIR DISEASE; HERITABILITY; MEDICAL LITERATURE; MISSENSE MUTATION; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MULTIFACTORIAL GENETIC DISORDER; PIGMENT DISORDER; PORPHYRIA; PRENATAL DIAGNOSIS; PSEUDOXANTHOMA ELASTICUM; PUBLICATION; SKIN CANCER; SKIN DISEASE;

EID: 0036975802     PISSN: 10870024     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2002.19637.x     Document Type: Conference Paper

References (157)

1. Ahmad W, Panteleyev AA, Christiano AM: The molecular basis of congenital atrichia in humans and mice: mutations in the hairless gene. J Invest Dermatol Symp Proc 4:240-243, 1999
2. Anikster Y, Huizing M, White J, et al: Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 28:376-380, 2001
3. Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE: Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 8:143-148, 1999
4. Asumalahti K, Veal C, Latinen T, et al: Coding haplotype analysis supports HCR as the putative susceptibility gene at the MHC PSORS1 locus. Hum Mol Genet 11:589-597, 2002
5. Attie T, Till M, Pelet A, et al: Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet 4:2407-2409, 1995
6. Avila JJ́, Lympany PA, Pantelidis P, Welsh KI, Black CM, duBois RM: Fibronectin gene polymorphisms associated with fibrosing alveolitis in systemic sclerosis. Am J Respir Cell Mol Biol 20:106-112, 1999
7. Azuma H: Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest 47:81-90, 2000
8. Bacchelli B, Ouaglino D, Gheduzzi D, et al: Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma clasticum (PXE). Mod Pathol 12:1112-1123, 1999
9. Bale SJ, Falk RT, Rogers GR: Patching together the genetics of Gorlin syndrome. J Cutan Med Surg 3:31-34, 1998
10. Bassett JHD, Forbes SA, Pannett AAJ, et al: Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 62:232-244, 1998
11. Baumgartner MR, Hu CA, Almashanu S, et al: Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet 9:2853-2858, 2000
12. Bergen AA, Plomp AS, Schuurman EJ, et al: Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 25:228-231, 2000
13. Berlin AL, Paller AS, Chan LS: Incontinentia pigmenti. A review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 47:169-187, 2002
14. Berneburg M, Lehmann AR: Xeroderma pigmentosum and related disorders: Defects in DNA repair and transcription. Adv Genet 43:71-102, 2001
15. Bignell GR, Warren W, Seal S, et al: Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 25:160-165, 2000
16. Boissy RE, Nordlund JJ: Molecular basis of congenital hypopigmentary disorders in humans: a review. Pigment Cell Res 10:12-24, 1997
17. Bomont P, Cavalier L, Blondeau F, et al: The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet 26:370-374, 2000
18. Bonifas JM, Morley BJ, Oakey RE, Kan YW. Epstein EH Jr: Cloning of a cDNA for steroid sulfatase: Frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci USA 84:9248-9251, 1987
19. Bonneau D, Longy M: Mutations of the human PTEN gene. Hum Mutat 16:109-122, 2000
20. Bowen B, Hawk JJ, Sibunka S, Hovick S, Weiler JM: A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clin Immunol 98:157-163, 2001
21. Brooks-Wilson A, Marcil M, Clee SM, et al: Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nature Genet 22:336-345, 1999
22. Brouillard P, Boon LM, Mulliken JB, et al: Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet 70:866-874, 2002
23. Bruckner-Tuderman L: Epidermolysis bullosa. In: Royce PM Steinmann B. eds. Connective Tissue and its Heritable Disorders: Molecular, Genetic and Medical Aspects, 2nd edn.. New York: Wiley-Liss, 2002 pp. 687-725
24. Cai L, Struk B, Adams MD, et al: A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. J Mol Med 78:36-46, 2000
25. Cai L, Lumsden A, Guenther UP, et al: A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its psendogene: Implications for mutation analysis in pseudoxanthoma elasticum. J Mol Med 79:536-546, 2001
26. Celli J, Duijf P, Hamel BCJ, et al: Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99:143-153, 1999
27. Chavanas S, Bodemer C, Rochat A, et al: Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 25:141-142, 2000
28. Chia NVC, Stuart P, Nair RP, et al: Variations in the HCR (Pg8) gene are unlikely to be causal for familial psoriasis. J Invest Dermatol 116:823-824, 2000
29. Christiano AM, Greenspan DS, Hoffman GG, et al: A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet 4:62-66, 1993
30. Christiano AM, LaForgia S, Paller AS, McGuire J, Shimizu H, Uitto J: Prenatal diagnosis of recessive dystrophic epidermolysis bullosa in ten families by mutation and haplotype analysis in type VII collagen gene (COL7A1). Molec Med 2:59-76, 1996
31. Christiano AM, Pulkkinen L, McGrath JA, Uitto J: Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenatal Diag 17:343-354, 1997
32. Derry JM, Gormally E, Means GD, et al: Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 22:286-290, 1999
33. Digilio MC, Conti E, Sarkozy A, et al: Grouping of multiple-lentigines/LEOPARD and Noonan Syndromes on the PTPN11 gene. Am J Hum Genet 71:389-394, 2002
34. DiLella AG, Marvit J, Lidsky AS, Guttler F, Woo SLC: Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322:799-803, 1986
35. Dode C, Le Du N, Cuisset L, et al: New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet 70:1498-1506, 2002
36. Doffinger R, Smahi A, Bessia C, et al: X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27:277-285, 2001
37. Dong SM, Kim KM, Kim SY, et al: Frequent somatic mutations in serine/threonine kinase 11/Peutz-Jeghers syndrome gene in left-sided colon cancer. Cancer Res 58:3787-3790, 1998
38. Dore MX, Dieumegard B, Grandjouan S, et al: Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis. Ann Dermatol Venereol 126:582-586, 1999
39. Edery P, Attie T, Amiel J, et al: Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Vaardenburg syndrome). Nat Genet 12:442-444, 1996
40. Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M: KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet 9:1351-1355, 2000
41. Epstein EH Jr: Molecular genetics of epidermolysis bullosa. Science 256:799-803, 1992
42. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S: The molecular basis of alkaptonuna. Nature Genet 14:19-24, 1996
43. Fine JD, Eady RA, Bauer EA, et al: Revised classification system for inherited epidermolysis bullosa. Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 42:1051-1066, 2000
44. Fischer J, Bouadjar B, Heilig R, et al: Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet 10:875-880, 2001
45. Frank J, Pignata C, Panteleyev AA, et al: Exposing the human nude phenotype. Nature 398:473-474, 1999
46. Fuchs E: Genetic skin disorders of keratin. J Invest Dermatol 99:671-674, 1992
47. Giebel LB, Spritz RA: Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci USA 88:8696-8699, 1991
48. Gould SJ, Valle D: Peroxisome biogenesis disorders, genetics and cell biology. Trends Genet 16:340-345, 2000
49. Hamada T, McLean WH, Ramsay M, et al: Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 11:833-840, 2002
50. Hart TC, Hart PS, Michalec MD, et al: Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. J Med Genet 37:88-94, 2000
51. Hart TC, Zhang Y, Gorry MC, et al: A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am J Hum Genet 70:943-954, 2002
52. Hashimoto I, Kon A, Tamai K, Uitto J: Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? Exp Derm 8:140-142, 1999
53. Hilal L, Rochat A, Duquesnoy P, et al: A homozygous insertion-deletion in the type VII collagen gene (COL7A1) predicting a truncated protein in the Hallopeau-Siemens form of recessive dystrophic epidermolysis bullosa. Nat Genet 5:287-293, 1993
54. Hu Z, Bonifas JM, Beech J, et al: Mutations in ATP2C1, encoding a calcium pump, cause Halley-Halley disease. Nat Genet 24:61-65, 2000
55. Ingham PW: The patched gene in development and cancer. Curr Opin Genet Dev 8:88-94, 1998
56. International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797-807, 1997
57. Irrthum A, Kärkkäinen MJ, Devriendt K, Alitalo K, Vikkula M: Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet 67:295-301, 2000
58. Irvine AD, McLean WH: Human keratin diseases. The increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 140:815-828, 1999
59. Ishida-Yamamoto A, Iizuka H: Structural organization of cornified cell envelopes and alterations in inherited skin disorders. Exp Derm 7:1-10, 1998
60. Jobard F, Lefevre C, Karaduman A, et al: Lipoxygenase-3 (ALOXE3) and 12 (R) - lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-113, 2002
61. Jones AM, Gaspar HB: Imunogenetics, changing the face of immunodeficiency. J Clin Path 53:60-65, 2000
62. Kaler SG: Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol 1:85-98, 1998
63. Kere J, Srivastava AK, Montonen O, et al: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13:409-416, 1996
64. Kirschner LS, Carney JA, Pack SD, et al: Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 26:89-92, 2000
65. Koch J, Gartner S, Li C-M, et al: Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase: identification of the first molecular lesion causing Farber disease. J Biol Chem 271:33110-33115, 1996
66. Korge BP, Healy E, Munro CS, et al: A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. J Invest Dermatol 111:896-899, 1998
67. Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, et al: A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. J Invest Dermatol 118:87-93, 2002
68. Kruger WD, Cox DR: A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. Hum Molec Genet 4:1155-1161, 1995
69. Küry S, Dreno B, Bezieau S, Giraudet S, Kharfi M, Kamoun R, Moisan JP: Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Nat Genet 31:239-240, 2002
70. Lamartine J, Munhoz-Essenfelder G, Kibar Z, ez al: Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 26:142-144, 2000
71. Lefevre C, Jobard F, Caux F, et al: Mutations in cgi-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 69:1002-1012, 2001
72. Le Parc JM, Molcard S, Tubach F, et al: Marfan syndrome and fibrillin disorders. Joint Bone Spine 67:401-407, 2000
73. Le Saux O, Urban Z, Goring HH, et al: Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. Genomics 62:1-10, 1999
74. Le Saux O, Urban X, Tschuch C, et al: Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 25:223-237, 2000
75. Le Saux O, Beck K, Sachsinger C, et al: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet 69:749-764, 2001
76. Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A: Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 11:2113-2118, 2002
77. MacCollin M, Kwiatkowski D: Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1. Curr Opin Neurol 14:163-169, 2001
78. Maestrini E, Korge BP, Ocana-Sierra J, et al: A missense mutation in connexin 6, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 8:1237-1243, 1999
79. Maestrini E, Monaco AP, McGrath JA, et al: A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 13:70-77, 1996
80. Mallon E, Newson R, Bunker CB: HLA-Cw6 and the genetic predisposition to psoriasis: a meta-analysis of published serologic studies. J Invest Dermatol 113:693-695, 1999
81. Mao JR, Bristow J: The Ehlers-Danlos syndrome: On beyond collagens. J Clin Invest 107:1063-1069, 2001
82. Marciniak RA, Johnson FB, Guarente L: Dyskeratosis congenita, telomeres and human ageing. Trends Genet 16:193-195, 2000
83. McGrath JA: A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes. J Dermatol 26:764-769, 1999
84. McGrath JA, Handyside AH: Preimplantation genetic diagnosis of severe inherited skin diseases. Exp Derm 7:65-72, 1998
85. McGrath JA, Duijf PH, Doetsch V, et al: Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet 10:221-229, 2001
86. McKoy G, Protonotarios N, Crosby A, et al: Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119-2124, 2000
87. McKusick VA: Heritable Disorders of Connective Tissue, 4th edn. St. Louis: Mosby, 1972
88. Meloni I, Rubegni P, De Aloe G. et al: Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. Hum Mutat 18:85, 2001
89. Menasche G, Pastural E, Feldmann J, et al: Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 25:173-176, 2000
90. Miceli-Richard C, Lesage S, Rybojad M, et al: CARD15 mutations in Blau syndrome. Nat Genet 29:19-20, 2001
91. Momeni P, Glockner G, Schmidt O, et al: Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet 24:71-74, 2000
92. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J: Mutations in the human homologue of mouse d1 cause antosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 22:366-369, 1999
93. Morello R, Zhou G, Dreyer SD, et al: Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 27:205-208, 2001
94. Nagle DL, Karim MA, Woolf EA, et al: Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 14:307-311, 1996
95. Nakano A, Pfendner E, Pulkkinen L, Hashimoto I, Uitto J: Herlitz junctional epidermolysis bullosa. Novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J Invest Dermatol 115:493-498, 2000
96. Nakano A, Chao S-C, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J: Laminin 5 mutations in junctional epidermolysis bullosa. Molecular basis of Herlitz vs. Non-Herlitz phenotypes. Hum Genet 110:41-51, 2001a
97. Nakano A, Murrell D, Rico J, et al: Epidermolysis bullosa with congenital pyloric atresia. Novel mutations in the β4 integrin gene (ITGB4) and genotype/phenotype correlations. Ped Res 49:618-626, 2001b
98. Nakano A, Nomura K, Nakano H, et al: Papillon-Lefevre syndrome. Mutations and polymorphisms in the cathepsin C gene. J Invest Dermatol 116:339-343, 2001c
99. Nakura J, Ye L, Morishima A, Kohara K, Miki T: Helicases and aging. Cell Mol Life Sci 57:716-730, 2000
100. Nath SK, Kelly JA, Namjou B, et al: Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus. Am J Hum Genet 69:1401-1406, 2001
101. Natt E, Kida K, Odievre M, Di Rocco M, Scherer G: Point mutations in the tyrosine aminotranferase gene in tyrosinemia type II. Proc Nat Acad Sci 89:9297-9301, 1992
102. Neldner K: Pseudoxanthoma elasticum. Clin Dermatol 6:1-155, 1988
103. Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH: Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 69:981-988, 2001
104. Nonoyama S, Ochs HD: Characterization of the Wiskott-Aldrich syndrome protein and its role in the disease. Curr Opin Immunol 10:407-412, 1998
105. Nordlund JJ, Boissy RE, Hearing VJ, et al. The Pigmentary System. Physiology and Pathophysiology. Oxford: Oxford University Press, 1998
106. Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al: Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761-2766, 2000
107. Norris DA, Uitto J, Epstein E Jr, Yohn J: The genetics of skin disease. J Invest Derm 103(Suppl.): 1S-158S, 1994
108. O'Brien KP, Holm SJ, Nilsson S, et al: The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene. J Invest Dermatol 116:750-754, 2001
109. Okajima T, Fukumoto S, Furukawa K, Urano T: Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. J Biol Chem 274:28841-28844, 1999
110. Pastural E, Ersoy F, Yalman N, et al: Two genes are responsible for Griscelli syndrome at the same 15q21 locus. Genomics 63:299-306, 2000
111. Peters FP, Sommer A, Vermeulen A, Cheriex EC, Kho TL: Fabry's disease: a multidisciplinary disorder. Postgrad Med J 73:710-712, 1997
112. Pfendner E, Uitto J, Fine J-D: Epidermolysis bullosa carrier frequencies in the US population. J Invest Dermatol 116:483-484, 2001
113. Pingault V, Bondurand N, Kuhlbrodt K, et al: SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171-173, 1998
114. Platz A, Ringborg U, Hansson J: Hereditary cutaneous melanoma. Semin Cancer Biol 10:319-326, 2000
115. Pope FM: Historical evidence for the genetic heterogeneity for pseudoxanthoma elasticum. Br J Dermatol 92:493-509, 1975
116. Pulkkinen L, Nakano A, Ringpfeil F, Uitto J: Identification of ABCC6 pseudogenes on human chromosome 16p: Implications for mutation detection in pseudoxanthoma elasticum. Hum Genet 109:356-365, 2002
117. Pulkkinen L, Ringpfeil F, Uitto J: Progress in heritable skin diseases. Molecular bases and clinical implications. J Am Acad Dermatol 47:91-104, 2002a
118. Pulkkinen L, Uitto J: Hemidesmosomal variants of epidermolysis bullosa. Mutations in the α6β4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes. Exp Derm 7:46-64, 1998
119. Pulkkinen L, Uitto J: Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol 18:29-42, 1999
120. Richard G: Connexin disorders of the skin. In: James WD, Cockerell CJ, Dzubow LM, Paller AS, Yancey KB. eds. Advances in Dermatology, Vol. 17. St. Louis: Mosby-Year Book Inc, 2001, pp 243-277
121. Rickman L, Simrak D, Stevens HP, et al: N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 8:971-976, 1999
122. Ridanpää M, van Eenennaam H, Pelin K, et al: Mutations in the RNA component of Rnase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 104:195-203, 2001
123. Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J: Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci USA 97:6001-6006, 2000
124. Ringpfeil F, Nakano A, Uitto J, Pulkkinen L: Compound heterozygosity for a recurrent 16.5 kb Alu-mediated deletion mutation and single-base substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am J Hum Genet 68:642-652, 2001
125. Rizzo WB: Inherited disorders of fatty alcohol metabolism. Mol Genet Metab 65:63-73, 1998
126. Rowan A, Bataille V, MacKie R, Healy E, Bicknell D, Bodmer W, Tomlinson I: Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas. J Invest Dermatol 112:509-511, 1999
127. 2+ pump, cause Darier disease. Nat Genet 21:271-277, 1999
128. Sassa S, Kappas A: Molecular aspects of the inherited porphyrias. J Intern Med 247:169-178, 2000
129. Schalkwijk J, Zweers MC, Steijlen PM, et al: A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 345:1167-1175, 2001
130. Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ: Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat 6:288-302, 1995
131. Sherer DW, Bercovitch L, Lebwohl M: Pseudoxanthoma elasticum. Significance of limited pbenotypic expression in parents of affected offspring. J Am Acad Dermatol 44:534-537, 2001
132. Shore EM, Ahn J, January de Beur S, et al: Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med 10:99-106, 2002
133. Smahi A, Courtois G, Vabres P, et al: Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. Nature 405:466-472, 2000
134. Spacey SD, Gatti RA, Bebb G: The molecular basis and clinical management of ataxia telangiectasia. Can J Neurol Sci 27:184-191, 2000
135. Sprecher E, Ishida-Yamamoto A, Becker OM, et al: Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol 116:511-519, 2001a
136. Sprecher E, Bergman R, Richard G, et al: Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nat Genet 29:134-136, 2001b
137. Sprecher E, Chavanas S, DiGiovanna JJ, et al: The spectrum of pathogenic mutations in SPINK 5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol 117:179-187, 2001c
138. Steinmann B, Royce PM, Superti-Furga A: The Ehlers-Danlos syndrome. In: Royce PM, Steinmann B, eds. Connective Tissue and its Heritable Disorders: Molecular, Genetic and Medical Aspects, 2nd edn, New York: Wiley-Liss, 2002, pp. 431-523
139. Stevens A, Ray D, Alansari A, et al: Characterization of a prolactin gene polymorphism and its associations with systemic lupus erythematosus. Arthritis Rheum 44:2358-2366, 2001
140. Struk B, Cai L, Zach S, et al: Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med 78:282-286, 2000
141. Suzuki T, Li W, Zhang Q, et al: Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 30:321-324, 2002
142. Sybert VP: Genetic Skin Disorders. Oxford Monographs on Medical Genetics. no. 33.. Oxford: Oxford University Press, 1997
143. Tan FK, Wang N, Kuwana M, Chakraborty R, Bona CA, Milewicz DM, Arnett FC: Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations. Arthritis Rheum 44:893-901, 2001
144. Tomlinson IP, Alam NA, Rowan AJ, et al: Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30:406-410, 2002
145. Toomes C, James J, Wood AJ, et al: Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 23:421-424, 1999
146. Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI: A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. New Eng J Med 316:570-575, 1987
147. Uitto J, Christiano AM: Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J Clin Invest 90:687-692, 1992
148. Uitto J, Pulkkinen L: The genodermatoses: Candidate diseases for gene therapy. Hum Gene Ther 11:2267-2275, 2000
149. Uitto J, Pulkkinen L: Epidermolysis bullosa. The disease of the cutaneous basement membrane zone. In: Scriver CR, Beaudet A, Valle D, Sly WS, Vogelstein B, Kintler KW Childs B, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2001 pp. 5655-5674
150. Uitto J, Pulkkinen L: Heritable diseases affecting the elastic tissues. Cutis laxa, pseudoxanthoma elasticum and related disorders. In: Rimoin DL, Connor JM, Pyeritz R, Korf BR. Emery & Rimoin's Principles, Practice of Medical Genetics, Vol, 3. New York: Churchill Livingstone, 2002 pp. 4044-4070
151. Uitto J, Pulkkinen L, Ringpfeil F: Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? Trends Mol Med 7:13-17, 2001
152. Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I: The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413:432-435, 2001
153. Walley AJ, Chavanas S, Moffat ME et al: Gene polymorphism in Netherton and common atopic disease. Nat Genet 29:175-178, 2001
154. Wilson PJ, Morris CP, Anson DS, et al: Syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Nat Acad Sci 87:8531-8535, 1990
155. Winter H, Rogers MA, Langbein L, et al: Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 16:372-374, 1997
156. Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, Kuroda Y: Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet 28:313-314, 2001
157. Zhu W, Malloy PJ, Delvin E, Chabot G, Feldman D: Hereditary 1,25 dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor. J Bone Miner Res 13:259-264, 1998