Document Detail


Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.
MedLine Citation:
PMID:  9147870     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A unique substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen was identified in a proband with Ehlers-Danlos syndrome type IV. The substitution was due to the transition of G 3302 to A in alpha 1(III) cDNA which is encoded by exon 46 of COL3A1. It resulted in a severe deficiency of type III collagen in fibroblast cultures and dermis. Dilatation of the endoplasmic reticulum of the dermal fibroblasts was probably due to the failure of these cells to secrete type III collagen molecules containing one or more mutant alpha 1(III) chains. The dermal collagen fibrils were narrow, but their constituent type III collagen molecules contained predominantly normal alpha 1(III) chains. As a results, the major effect of the substitution of glycine 934 by glutamic acid was to severely reduce the amount of normal type III collagen available for the formation of heterotypic collagen fibrils in the extracellular matrix.
Authors:
J McGrory; R Weksberg; P Thorner; W G Cole
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  50     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1996 Dec 
Date Detail:
Created Date:  1997-05-09     Completed Date:  1997-05-09     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  442-5     Citation Subset:  IM    
Affiliation:
Division of Orthopaedics, Hospital for Sick Children, Toronto, Ontario, Canada.
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MeSH Terms
Descriptor/Qualifier:
Aged
Collagen / chemistry,  genetics*
DNA Mutational Analysis
Ehlers-Danlos Syndrome / genetics*,  metabolism
Extracellular Matrix / chemistry*
Female
Humans
Middle Aged
Point Mutation*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Skin / pathology
Chemical
Reg. No./Substance:
9007-34-5/Collagen

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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