Shahin et al. (2010) carried out a molecular study to identify the genes responsible for inherited hearing loss, by using high-density SNP arrays to genotype the DNA of 155 relatives (including: 78 patients, 28 of their hearing siblings, and 49 parents) from 20 Palestinian consanguineous families with prelingual bilateral autosomal recessive non-syndromic hearing loss (NSHL). In 14 families, Shahin et al. (2010) identified the allele responsible for hearing loss by screening a single candidate gene, known to be associated with hearing loss, in the longest homozygous region. Among these 14 families, Shahin et al. (2010) identified a novel variant (c.7545G>T) in exon 35 of the MYO15A gene in two families with five affected sibs (two males and three females), and three female affected members, respectively. Splicing analysis revealed that the c.7545G>T mutation led to the creation of an alternate GT donor splice site and deletion of 7 nucleotides (c.7544-c.7550) from the message. The mis-spliced message alters the reading frame and is predicted to produce 11 novel amino acids prior to the introduction of a nonsense codon (Asp2403fsX2414). Sequence analysis of the cDNA demonstrated that the nonsense codon is stable and evades nonsense-mediated decay. This allele was homozygous in five out of 218 (2.3%) unrelated deaf probands, making MYO15A the third most common cause of non-syndromic deafness in the West Bank after connexin 26 and TRIOBP.

Using targeted DNA capture and massively parallel sequencing (MPS), Brownstein et al. (2011) screened 246 genes known to be responsible for human or mouse deafness in 11 probands of Jewish and Palestinian Arab origin and identified mutations associated with hearing loss in a subset of these probands and their extended families. Among these 11 families, one consanguineous family of Palestinian Arab origin included three sibs affected with congenital, profound, and recessive hearing loss. The proband in this family was homozygous for the novel mutation c.4240G>A (p.E1414K) in the MYO15A gene.

Belguith et al. (2009) carried out a molecular study on 77 Tunisian consanguineous families segregating recessive deafness. Genetic analysis revealed evidence of linkage to microsatellite markers for DFNB3 in four families. In two of these families, sequencing of MYO15A led to the identification of two novel homozygous mutations: a nonsense (c.4998C>A; p.C1666X) mutation in exon 17 and a splice site mutation in intron 54 (c.9229+1G>A). A novel mutation of unknown significance, c.7395+3G>C, was identified in the third family, and no mutation was found in the fourth family. This finding suggested the possibility that there are two distinct genes at the DFNB3 locus.