Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: From prenatal life through adulthood

Clinical Genetics

Volumn 82, Issue 2, 2012, Pages 121-130

  Klaassens, M ^a,b   Reinstein, E ^c   Hilhorst Hofstee, Y ^d   Schrander, J J P ^a   Malfait, F ^e   Staal, H ^a   ten Have, L C ^f   Blaauw, J ^g   Roggeveen, H C J ^d   Krakow, D ^c   De Paepe, A ^e   van Steensel, M A M ^a,b   Pals, G ^h   Graham, Jr ^c   Schrander Stumpel, C T R M ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f REINIER DE GRAAF HOSPITAL   (Netherlands)

^g SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^h VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

(sub)luxations; Danlos syndrome (EDS); EDS type VII; Ehlers; Hypermobility; The arthrochalasia type EDS

Indexed keywords

COLLAGEN; COLLAGEN TYPE 1 ALPHA 1; COLLAGEN TYPE 2 ALPHA 2; UNCLASSIFIED DRUG;

ACETABULUM; ADULT; ADULTHOOD; ARTICLE; BONE DENSITOMETRY; BONE RADIOGRAPHY; CHILD; CLINICAL ARTICLE; COLLAGEN SYNTHESIS; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DNA DETERMINATION; DUAL ENERGY X RAY ABSORPTIOMETRY; EHLERS DANLOS SYNDROME; EXON; FACE DYSMORPHIA; FEMALE; FIBROBLAST; FOLLOW UP; GENE MUTATION; GESTATIONAL AGE; HIP DISLOCATION; HIP SURGERY; HUMAN; INFANT; JOINT DISLOCATION; JOINT HYPERMOBILITY; JOINT LAXITY; MALE; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; MUTATION; NEUROLOGIC DISEASE; PHENOTYPE; PHYSICAL EXAMINATION; PHYSICIAN; POSITIVE END EXPIRATORY PRESSURE; PRENATAL PERIOD; PRIORITY JOURNAL; PROTEIN CLEAVAGE; RECURRENT DISEASE; SKIN BRUISING; WALKING AID; WOUND HEALING;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE I; EHLERS-DANLOS SYNDROME; EXONS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PHENOTYPE; RNA SPLICE SITES; YOUNG ADULT;

EID: 84863778273     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01758.x     Document Type: Article

References (26)

1. Beighton P, De Paepe A, Steinmann B et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998: 77: 31-37.
2. Yen JL, Lin SP, Chen MR et al. Clinical features of Ehlers-Danlos syndrome. J Formos Med Assoc 2006: 105: 475-480.
3. Hass J, Hass R. Arthrochalasis multiplex congenita; congenital flaccidity of the joints. J Bone Joint Surg Am 1958: 40-A: 663-674.
4. Giunta C, Superti-Furga A, Spranger S et al. Ehlers-Danlos syndrome type VII: clinical features and molecular defects. J Bone Joint Surg Am 1999: 81: 225-238.
5. Byers PH, Duvic M, Atkinson M et al. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. Am J Med Genet 1997: 72: 94-105.
6. Schakel W, Walther FJ. Een neonaat met flexibele gewrichten. Nederlands Tijdschrift voor Geneeskunde 2010: 154: A1141.
7. Nicholls AC, Sher JL, Wright MJ et al. Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII. J Med Genet 2000: 37: E33.
8. Whitaker IS, Rozen WM, Cairns SA et al. Molecular genetic and clinical review of Ehlers-Danlos type VIIA: implications for management by the plastic surgeon in a multidisciplinary setting. J Plast Reconstr Aesthet Surg 2009: 62: 589-594.
9. Chiodo AA, Hockey A, Cole WG. A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. J Biol Chem 1992: 267: 6361-6369.
10. Weil D, D'Alessio M, Ramirez F et al. Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII. J Biol Chem 1989: 264: 16804-16809.
11. Vasan NS, Kuivaniemi H, Vogel BE et al. A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. Am J Hum Genet 1991: 48: 305-317.
12. Weil D, D'Alessio M, Ramirez F et al. Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient. J Biol Chem 1990: 265: 16007-16011.
13. Watson RB, Wallis GA, Holmes DF et al. Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section. J Biol Chem 1992: 267: 9093-9100.
14. Weil D, Bernard M, Combates N et al. Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. J Biol Chem 1988: 263: 8561-8564.
15. Pope FM, Nicholls AC, Palan A et al. Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB. Br J Dermatol 1992: 126: 77-82.
16. D'Alessio M, Ramirez F, Blumberg BD et al. Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. Am J Hum Genet 1991: 49: 400-406.
17. Cole WG, Chan D, Chambers GW et al. Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem 1986: 261: 5496-5503.
18. Le Goff C, Somerville RP, Kesteloot F et al. Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis. Development 2006: 133: 1587-1596.
19. Malfait F, De Coster P, Hausser I et al. The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). Am J Med Genet A 2004: 131: 18-28.
20. Cabral WA, Makareeva E, Colige A et al. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem 2005: 280: 19259-19269.
21. Dolan AL, Arden NK, Grahame R et al. Assessment of bone in Ehlers Danlos syndrome by ultrasound and densitometry. Ann Rheum Dis 1998: 57: 630-633.
22. Bennet GC, Rang M, Roye DP et al. Dislocation of the hip in trisomy 21. J Bone Joint Surg Br 1982: 64: 289-294.
23. Steel HH, Kohl EJ. Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings. J Bone Joint Surg Am 1972: 54: 75-82.
24. Byers PH, Tsipouras P, Bonadio JF et al. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 1988: 42: 237-248.
25. Cabral WA, Marini JC. High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. Am J Hum Genet 2004: 74: 752-760.
26. Zlotogora J. Germ line mosaicism. Hum Genet 1998: 102: 381-386.