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PMID: 1370809 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

Human genetics ·Vol. 88 ·No. 3 ·1992-01-00 ·Pages 325-30

Richards AJ, Lloyd JC, Narcisi P, Ward PN, Nicholls AC, De Paepe A, Pope FM

Abstract

A large family with Ehlers-Danlos syndrome type IV (EDS IV) has previously been described. Unlike most cases of EDS IV, fibroblasts from affected members secreted near normal amounts of type III collagen. We have localized the mutation in this family to the CB5 peptide of type III collagen, by using both protein and cDNA mapping techniques. Sequence analysis of cDNA revealed a 27-bp deletion within exon 37, a deletion that removed nine amino acids and maintained the Gly-X-Y repeat of the collagen helix. Further sequencing of genomic DNA confirmed its location, and amplification of DNA from family members showed that it was absent in unaffected individuals but present in all the affected individuals tested. This deletion is flanked by two short direct repeats of CTCC; it may have arisen by slipped mispairing, and has subsequently been transmitted to all affected family members.

Related Genes
COL3A1
MeSH Terms
Alleles Base Sequence Chromosome Deletion Cloning, Molecular Collagen/genetics Cyanogen Bromide/chemistry DNA/genetics Ehlers-Danlos Syndrome/genetics Electrophoresis, Polyacrylamide Gel Humans Molecular Sequence Data Peptide Mapping Polymerase Chain Reaction RNA/isolation & purification
Chemicals
RNA Collagen DNA Cyanogen Bromide
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Richards A J
Dermatology Research Group, Clinical Research Centre, Harrow, Middlesex, UK.
Lloyd J C
Narcisi P
Ward P N
Nicholls A C
De Paepe A
Pope F M
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00197268
Published
1992-01-00
Pages
325-30
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Databases
GENBANK
S78352, S78354, S78357, S78405, S78409, S78411, S78413, S78753, S78801, S78804
External Links
PubMed source DOI: 10.1007/BF00197268 View journal details
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