一个非综合征性听力损失新基因（DFNB17）定位于染色体7q31区域。

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.

作者信息

Greinwald J H, Wayne S, Chen A H, Scott D A, Zbar R I, Kraft M L, Prasad S, Ramesh A, Coucke P, Srisailapathy C R, Lovett M, Van Camp G, Smith R J

机构信息

Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.

出版信息

Am J Med Genet. 1998 Jun 30;78(2):107-13.

PMID:9674898

Abstract

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary hearing impairment (HHI). To date, 16 different loci have been reported, making ARNSHL an extremely heterogeneous disorder. One of these loci, DFNB4, was mapped to a 5-cM interval of 7q31 in a large Middle-Eastern Druze family. This interval also includes the gene for Pendred syndrome. We report on three new families with HHI from the Madras region of southern India that demonstrate linkage to 7q. Their pedigrees are compatible with autosomal recessive inheritance. Furthermore, the largest family identifies a novel locus (DFNB17) telomeric to the DFNB4 and Pendred intervals. A 3-cM region of homozygosity by descent between markers D7S486 and D7S2529 is present in all affected individuals in this family and generates a multipoint LOD score of 4.24. The two other families map to the previously reported DFNB4 region but have insufficient power to attain significant LOD scores. However, mutations in the Pendred syndrome gene are present in one of these families.

摘要

常染色体隐性非综合征性听力损失（ARNSHL）是遗传性听力障碍（HHI）最常见的形式。迄今为止，已报道了16个不同的基因座，这使得ARNSHL成为一种极其异质性的疾病。其中一个基因座DFNB4，在一个中东德鲁兹大家族中被定位到7q31的一个5厘摩区间。这个区间还包括 Pendred 综合征的基因。我们报告了来自印度南部马德拉斯地区的三个患有HHI的新家族，它们显示与7q连锁。其家系符合常染色体隐性遗传。此外，最大的家族确定了一个位于DFNB4和 Pendred 区间端粒侧的新基因座（DFNB17）。在这个家族的所有受影响个体中，标记D7S486和D7S2529之间存在一个3厘摩的同源纯合区域，产生了4.24的多点对数优势分数。另外两个家族定位到先前报道的DFNB4区域，但没有足够的能力获得显著的对数优势分数。然而，其中一个家族存在 Pendred 综合征基因突变。