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

Hamish S. Scott, Jun Kudoh, Marie Wattenhofer, Kazunori Shibuya, Asher Berry, Roman Chrast, Michel Guipponi, Jun Wang, Kazuhiko Kawasaki, Shuichi Asakawa, Shinsei Minoshima, Farah Younus, S. Qasim Mehdi, Uppala Radhakrishna, Marie Pierre Papasavvas, Corinne Gehrig, Colette Rossier, Michael Korostishevsky, Andreas Gal, Nobuyoshi ShimizuBatsheva Bonne-Tamir, Stylianos E. Antonarakis

研究成果: Article査読

178 被引用数 (Scopus)

抄録

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 (∼68-bp) β-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 β-satellite insertion into an active gene resulting in a pathogenic state, and the first description of a protease involved in hearing loss.

本文言語English
ページ(範囲)59-63
ページ数5
ジャーナルNature genetics
27
1
DOI
出版ステータスPublished - 2001

ASJC Scopus subject areas

  • 遺伝学

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