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PMID: 2875936 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.

Human genetics ·Vol. 74 ·No. 1 ·1986-09-00 ·Pages 41-6

Tsipouras P, Byers PH, Schwartz RC, Chu ML, Weil D, Pepe G, Cassidy SB, Ramirez F

Abstract

Ehlers-Danlos syndrome (EDS) type IV is a rare and catastrophic genetic disorder of the connective tissue. Individuals from two families with this disorder were studied for a restriction fragment length polymorphism (RFLP) associated with the COL3A1 gene. Our results suggested cosegregation of the EDS type IV phenotype with a COL3A1 RFLP allele. Biochemical studies in cultured skin fibroblasts indicated the presence of different mutations affecting the stability and secretion of the pro alpha 1(III) chains of type III procollagen in the two families, thus suggesting that EDS type IV is biochemically heterogeneous. Our data demonstrated the feasibility of molecular diagnosis in this condition using COL3A1 gene related RFLPs.

MeSH Terms
Alleles Collagen/genetics Ehlers-Danlos Syndrome/genetics Female Genetic Linkage Genetic Markers Humans Male Pedigree Phenotype Polymorphism, Restriction Fragment Length
Chemicals
Genetic Markers Collagen
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Tsipouras P
Byers P H
Schwartz R C
Chu M L
Weil D
Pepe G
Cassidy S B
Ramirez F
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17 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00278783
Published
1986-09-00
Pages
41-6
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Grants
NIADDK NIH HHS · AM21557 · United States
NIADDK NIH HHS · AM32380 · United States
NIGMS NIH HHS · GM15253 · United States
External Links
PubMed source DOI: 10.1007/BF00278783 View journal details
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