Document Detail


A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.
MedLine Citation:
PMID:  8275094     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a life-threatening autosomal disease characterized by loss of dermal-epidermal adherence with abnormal anchoring fibrils (AF). We recently linked HS-RDEB to the type VII collagen gene (COL7A1) which encodes the major component of AF. We describe a patient who is homozygous for an insertion-deletion in the FN-4A domain of the COL7A1 gene. This defect causes a frameshift mutation which leads to a premature stop codon in the FN-5A domain, resulting in a marked diminution in mutated mRNA levels, with no detectable type VII collagen polypeptide in the patient. Our data suggest strongly that this null allele prevents normal anchoring fibril formation in homozygotes and is the underlying cause of HS-RDEB in this patient.
Authors:
L Hilal; A Rochat; P Duquesnoy; C Blanchet-Bardon; J Wechsler; N Martin; A M Christiano; Y Barrandon; J Uitto; M Goossens
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  5     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1994-02-04     Completed Date:  1994-02-04     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  287-93     Citation Subset:  IM    
Affiliation:
Laboratoire de Génétique moléculaire, INSERM U.91, Hôpital Henri Mondor, Créteil, France.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Blotting, Northern
Blotting, Western
Cells, Cultured
Child, Preschool
Collagen / genetics*
DNA Transposable Elements*
DNA, Complementary
Epidermolysis Bullosa Dystrophica / genetics*,  pathology
Fluorescent Antibody Technique
Humans
Male
Microscopy, Electron
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Genetic
Sequence Deletion*
Skin / pathology,  ultrastructure
Grant Support
ID/Acronym/Agency:
P01-AR38923/AR/NIAMS NIH HHS; T32-AR07561/AR/NIAMS NIH HHS
Chemical
Reg. No./Substance:
0/DNA Transposable Elements; 0/DNA, Complementary; 9007-34-5/Collagen

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


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