Shahin et al. (2010) reported two consanguineous Palestinian families in which affected members had prelingual bilateral autosomal recessive non-syndromic hearing loss (NSHL). Shahin et al. (2010) identified a novel mutation (c.7545G>T; p.Asp2403fsX2414) in the MYO15A gene in both families with five affected sibs (two males and three females) and three female affected members, respectively. This allele was homozygous in five out of 218 (2.3%) other unrelated deaf probands.

Brownstein et al. (2011) studied a consanguineous family of Palestinian Arab origin with three sibs affected with congenital, profound, and recessive hearing loss. The proband in this family was homozygous for a novel mutation c.4240G>A (p.E1414K) in the MYO15A gene.

Belguith et al. (2009) studied 77 Tunisian consanguineous families segregating recessive deafness. Genetic analysis of these families revealed evidence of linkage to microsatellite markers for DFNB3 in four families. In three of those four families, Belguith et al. (2009) identified three novel mutations in the MYO15A gene. These mutations were found to be a nonsense (c.4998C>A; p.C1666X) mutation in exon 17, a splice site mutation in intron 54 (c.9229+1G>A), and a mutation of unknown significance, c.7395+3G>C, respectively. No mutation was found in the fourth family. This finding suggested the possibility that there are two distinct genes at the DFNB3 locus.