Deafness (DFN), Autosomal Recessive (B) 13 (DFNB13) belongs to a large group of genetically heterogeneous hearing loss disorders. DFNB13 defines a genetic locus shown through linkage and fine mapping studies in multiple families to be inherited in individuals affected with moderate to profound sensorineural deafness.
Mustafa et al. (1998) studied autosomal recessive deafness in a large consanguineous Lebanese family with five siblings with nonsyndromic severe sensorineural deafness. Linkage studies mapped the genetic locus to 7q34q36 named DFNB13.
Masmoudi et al. (2004) studied autosomal recessive deafness in two consanguineous Tunisian families with 11 members with progressive nonsyndromic, severe to profound, bilateral sensorineural deafness. Linkage analysis and fine mapping narrowed the linkage interval described by Mustafa et al. (1998) in DFNB13 to a 2.2Mb interval which spanning 15 genes.