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

Détails

ID Serval
serval:BIB_097DD5082CF9
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa
Périodique
Nature Genetics
Auteur⸱e⸱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)
Statut éditorial
Publié
Date de publication
11/1993
Volume
5
Numéro
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
Résumé
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.
Mots-clé
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
Création de la notice
28/01/2008 8:41
Dernière modification de la notice
20/08/2019 12:31
Données d'usage