DFNB40是一种隐性遗传性感音神经性听力损失，定位于22号染色体q11.21-12.1区域。

DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.

作者信息

Delmaghani Sedigheh, Aghaie Asadollah, Compain-Nouaille Sylvie, Ataie Afsaneh, Lemainque Arnaud, Zeinali Sirous, Lathrop Mark, Weil Dominique, Petit Christine

机构信息

Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris cedex 15, France.

出版信息

Eur J Hum Genet. 2003 Oct;11(10):816-8. doi: 10.1038/sj.ejhg.5201045.

DOI:10.1038/sj.ejhg.5201045

PMID:14512974

Abstract

We report on a novel localization for a recessive form of deafness (DFNB), by linkage analysis in an Iranian consanguineous family. Affected individuals suffer from prelingual profound sensorineural hearing loss. Genome-wide analysis led to the characterization of a new locus, DFNB40, which maps to an approximately 9 Mb interval between markers D22S427 and D22S1144 at chromosome 22q11.21-12.1. Maximum lod score of 3.09 was obtained with D22S1174. Since the Bronx waltzer (bv) mouse mutant, characterized by waltzing behavior, deafness, and degeneration of cochlear inner hair cells, has been mapped to the syntenic region on murine chromosome 5, we suggest that DFNB40 and bv may result from orthologous gene defects.

摘要

我们通过对一个伊朗近亲家庭进行连锁分析，报告了一种隐性耳聋（DFNB）的新定位。受影响个体患有语前重度感音神经性听力损失。全基因组分析确定了一个新的基因座DFNB40，它定位于22号染色体q11.21 - 12.1上标记D22S427和D22S1144之间约9 Mb的区间。与D22S1174获得的最大对数优势分数为3.09。由于以摇摆行为、耳聋和耳蜗内毛细胞变性为特征的布朗克斯华尔兹（bv）小鼠突变体已定位到小鼠5号染色体的同区域，我们认为DFNB40和bv可能由直系同源基因缺陷导致。