Deafness, Autosomal Recessive 96

Description

Autosomal recessive deafness-96 (DFNB96) is a form of nonsyndromic sensorineural severe to profound hearing impairment with prelingual onset (summary by Ansar et al., 2011).

Clinical Features

Ansar et al. (2011) reported a consanguineous Pakistani family in which 4 individuals had prelingual onset of severe to profound nonsyndromic deafness affecting all frequencies.

Inheritance

The transmission pattern of nonsyndromic deafness in the family reported by Ansar et al. (2011) was consistent with autosomal recessive inheritance.

Mapping

By genomewide linkage analysis of a consanguineous Pakistani family with nonsyndromic deafness, Ansar et al. (2011) found linkage to an 11.67-Mb region on chromosome 1p36.31-p36.13 between SNPs rs3817914 and rs477558, designated DFNB96. A maximum 2-point lod score of 3.2 was found at rs8627, and a maximum multipoint lod score of 3.8 was obtained at 15 contiguous markers from rs630075 to rs10927583. Sequencing of the ESPN gene (606351) and 2 genes that cause Bartter syndrome, CLCNKA (602024) and CLCNKB (602023), did not identify pathogenic variants.