Zwaenepoel et al. (2002) reported a consanguineous Palestinian family with autosomal recessive moderate to severe prelingual sensorineural deafness. The disease in this family segregated with a locus, termed DFNB22, on chromosome 16p13.1-q11.2. Zwaenepoel et al. (2002) identified a splice site mutation in the OTOA gene (IVS12+2T>C) in the homozygous state in one affected child of this family. The mutation was found to cosegregate with the hearing impairment in this kindred and was not detected in 417 Jordanian, Lebanese, Palestinian, and Jewish (mainly Sephardic and Yemenite) individuals with normal hearing.

Walsh et al. (2006) undertook a study to identify the genes responsible for inherited hearing loss, by linkage scan using microsatellite markers in 156 affected individuals and their families. Walsh et al. (2006) identified a mutation in the OTOA gene in a Palestinian family with 6 members diagnosed with prelingual, bilateral, moderate to severe hearing loss. All affected members of the family were found to be homozygous for a missense mutation (c.1067A>T; p.D356V), while all unaffected members of the family were found to be either heterozygous carriers of this mutation or wild type.

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). Shahin et al. (2010) reported one family with sibs (two females and two males) affected with DFNB22. Deaf individuals in this family were found to be homozygous for a large genomic deletion of Otoancorin (OTOA) and their parents were found to be heterozygous for the deletion.