An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

Journal of Medical Genetics

Volumn 33, Issue 11, 1996, Pages 940-946

  Nicholls, A C ^a   Oliver, J E ^a   McCarron, S ^a   Harrison, J B ^b   Greenspan, D S ^c   Pope, F M ^a  

^a MRC Clinical Research Centre   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

Ehlers Danlos syndrome; Exon skipping; Type V collagen (COL5A1)

Indexed keywords

COLLAGEN FIBRIL; COLLAGEN TYPE 5; DNA; MESSENGER RNA; MUTANT PROTEIN;

ADULT; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CELL CULTURE; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA DETERMINATION; EHLERS DANLOS SYNDROME; ELECTRON MICROSCOPY; EXON; FEMALE; FIBROBLAST; GENE MUTATION; HEMATOMA; HUMAN; HUMAN CELL; HUMAN TISSUE; JOINT HYPERMOBILITY; MALE; NUCLEIC ACID BASE SUBSTITUTION; OSTEOGENESIS IMPERFECTA; PEPTIDE MAPPING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SKIN DISEASE;

EID: 0029839165     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.11.940     Document Type: Article

References (14)

1. Beighton P, De Paepe A, Danks D, et al. International nosology of heritable disorders of connective tissue, Berlin 1986. Am J Med Genet 1988;29:581-4.
2. Kuivaniemi H, Tromp G, Prockop DJ. Mutations in collagen genes: causes of rare and some common diseases in humans. FASED J 1991;5:2052-60.
3. Beighton P, De Paepe A, Hall J, et al. Molecular nosology of heritable disorders of connective tissue. Am J Med Genet 1992;42:431-8.
4. Smith LT, Wertelecki W, Milstone LM, et al. Human dermatosporaxis. A form of Ehlers-Danlos syndrome that results from failure to remove the amino terminal propeptide of type I procollagen. Am J Hum Genet 1992;51:235-44.
5. Nusgens BV, Verellen-Dumoulin Ch, Hermanns LeT, et al. Evidence for a relationship between Ehlers-Danlos syndrome type VIIc in humans and bovine dermatosparaxis. Nat Genet 1992;1:214-17.
6. Petty EM, Seashore MR, Braverman IM, Spiesel SZ, Smith LT, Milstone LM. Dermatosparaxis in children. Arch Dermatol 1993;129:1310-15.
7. Hausser I, Anton-Lamprecht I. Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndromes types I-IV as a means of diagnostics and classification. Hum Genet 1994;93:394-407.
8. Wordsworth P, Ogilvie D, Smith R, Sykes B. Exclusion of the α1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome. Ann Rheum Dis 1985;44:431-3.
9. Wordsworth BP, Ogilvie DJ, Sykes BC. Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome. Br J Rheumatol 1991;30:173-7.
10. Sokolov BP, Prytkov AN, Tromp G, Knowlton RG, Prockop DJ. Exclusion of COL1A1, COL1A2 and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family. Hum Genet 1991;88:125-9.
11. Loughlin J, Irven G, Hardwick LJ, et al. Linkage of the gene that encodes the 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). Hum mol Genet 1995;4:1649-51.
12. Greenspan DS, Northrup H, Au KS, et al. COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II. Genomics 1995;25:737-9.
13. Mayne R, Burgeson RE, eds. Structure and function of collagen types. Orlando, Florida: Academic Press, 1987.
14. Takahara K, Saw Y, Okazawa K, et al. Complete primary structure of human collagen α1(V) chain. J Biol Chem 1991;266:13124-9.