Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Détails

ID Serval
serval:BIB_FB38D52EDAAA
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
Périodique
Nature Genetics
Auteur(s)
Scott  H. S., Kudoh  J., Wattenhofer  M., Shibuya  K., Berry  A., Chrast  R., Guipponi  M., Wang  J., Kawasaki  K., Asakawa  S., Minoshima  S., Younus  F., Mehdi  S. Q., Radhakrishna  U., Papasavvas  M. P., Gehrig  C., Rossier  C., Korostishevsky  M., Gal  A., Shimizu  N., Bonne-Tamir  B., Antonarakis  S. E.
ISSN
1061-4036 (Print)
Statut éditorial
Publié
Date de publication
01/2001
Volume
27
Numéro
1
Pages
59-63
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jan
Résumé
Approximately 50% of childhood deafness is caused by mutations in specific genes. Autosomal recessive loci account for approximately 80% of nonsyndromic genetic deafness. Here we report the identification of a new transmembrane serine protease (TMPRSS3; also known as ECHOS1) expressed in many tissues, including fetal cochlea, which is mutated in the families used to describe both the DFNB10 and DFNB8 loci. An 8-bp deletion and insertion of 18 monomeric (approximately 68-bp) beta-satellite repeat units, normally present in tandem arrays of up to several hundred kilobases on the short arms of acrocentric chromosomes, causes congenital deafness (DFNB10). A mutation in a splice-acceptor site, resulting in a 4-bp insertion in the mRNA and a frameshift, was detected in childhood onset deafness (DFNB8). This is the first description of beta-satellite insertion into an active gene resulting in a pathogenic state, and the first description of a protease involved in hearing loss.
Mots-clé
Adult Age of Onset Base Sequence Child Consanguinity Contig Mapping DNA Mutational Analysis DNA, Satellite/*genetics Deafness/*congenital/*enzymology/epidemiology/genetics Exons/genetics Female Frameshift Mutation/genetics Genes, Recessive/*genetics Humans In Situ Hybridization, Fluorescence Israel Male *Membrane Proteins Molecular Sequence Data Mutagenesis, Insertional/*genetics *Neoplasm Proteins Pakistan Pedigree RNA Splice Sites/genetics RNA, Messenger/analysis/genetics Sequence Alignment Serine Endopeptidases/*genetics/metabolism
Pubmed
Web of science
Open Access
Oui
Création de la notice
24/01/2008 15:12
Dernière modification de la notice
20/08/2019 17:26
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