|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1
|
|
pubmed:dateCreated |
2001-1-11
|
|
pubmed:databankReference |
|
|
pubmed:abstractText |
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.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jan
|
|
pubmed:issn |
1061-4036
|
|
pubmed:author |
pubmed-author:AntonarakisS ESE,
pubmed-author:AsakawaSS,
pubmed-author:BerryAA,
pubmed-author:Bonne-TamirBB,
pubmed-author:ChrastRR,
pubmed-author:GasJJ,
pubmed-author:GehrigCC,
pubmed-author:GuipponiMM,
pubmed-author:KawasakiKK,
pubmed-author:KorostishevskyMM,
pubmed-author:KudohJJ,
pubmed-author:MehdiS QSQ,
pubmed-author:MinoshimaSS,
pubmed-author:PapasavvasM PMP,
pubmed-author:RadhakrishnaUU,
pubmed-author:RossierCC,
pubmed-author:ScottH SHS,
pubmed-author:ShibuyaKK,
pubmed-author:ShimizuNN,
pubmed-author:WangJJ,
pubmed-author:WattenhoferMM,
pubmed-author:YounusFF
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
27
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
59-63
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:11137999-Adult,
pubmed-meshheading:11137999-Age of Onset,
pubmed-meshheading:11137999-Base Sequence,
pubmed-meshheading:11137999-Child,
pubmed-meshheading:11137999-Consanguinity,
pubmed-meshheading:11137999-Contig Mapping,
pubmed-meshheading:11137999-DNA, Satellite,
pubmed-meshheading:11137999-DNA Mutational Analysis,
pubmed-meshheading:11137999-Deafness,
pubmed-meshheading:11137999-Exons,
pubmed-meshheading:11137999-Female,
pubmed-meshheading:11137999-Frameshift Mutation,
pubmed-meshheading:11137999-Genes, Recessive,
pubmed-meshheading:11137999-Humans,
pubmed-meshheading:11137999-In Situ Hybridization, Fluorescence,
pubmed-meshheading:11137999-Israel,
pubmed-meshheading:11137999-Male,
pubmed-meshheading:11137999-Membrane Proteins,
pubmed-meshheading:11137999-Molecular Sequence Data,
pubmed-meshheading:11137999-Mutagenesis, Insertional,
pubmed-meshheading:11137999-Neoplasm Proteins,
pubmed-meshheading:11137999-Pakistan,
pubmed-meshheading:11137999-Pedigree,
pubmed-meshheading:11137999-RNA, Messenger,
pubmed-meshheading:11137999-RNA Splice Sites,
pubmed-meshheading:11137999-Sequence Alignment,
pubmed-meshheading:11137999-Serine Endopeptidases
|
|
pubmed:year |
2001
|
|
pubmed:articleTitle |
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
|
|
pubmed:affiliation |
Division of Medical Genetics, University of Geneva Medical School, Genève, Switzerland.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
