DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51

Cytogenetic location: 11p13-p12 Genomic coordinates (GRCh38): 11:31,000,001-43,400,000

▼ Clinical Features

Shaikh et al. (2005) reported 2 consanguineous Pakistani families with autosomal recessive deafness. All affected individuals exhibited prelingual bilateral profound hearing loss without obvious vestibular or ocular anomalies.

▼ Mapping

By genomewide linkage analysis in a consanguineous Pakistani family with autosomal recessive deafness, Shaikh et al. (2005) found linkage of the disorder to a locus, termed DFNB51, within an 8.33-cM region on chromosome 11p13-p12 (maximum multipoint lod score of 3.8 at marker D11S4102). Linkage information from the second family refined the locus to a 5.06-cM interval between markers D11S4200 and D11S4102. Sequencing excluded mutations in the SLC1A2 (600300), TRAF6 (602355), and RAMP (regeneration-associated muscle protease) genes.