A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa

Details

Serval ID
serval:BIB_097DD5082CF9
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa
Journal
Nature Genetics
Author(s)
Hilal  L., Rochat  A., Duquesnoy  P., Blanchet-Bardon  C., Wechsler  J., Martin  N., Christiano  A. M., Barrandon  Y., Uitto  J., Goossens  M., Hovnanian  A.
ISSN
1061-4036 (Print)
Publication state
Published
Issued date
11/1993
Volume
5
Number
3
Pages
287-93
Notes
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Nov
Abstract
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.
Keywords
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
Pubmed
Web of science
Create date
28/01/2008 8:41
Last modification date
20/08/2019 12:31
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