PMC6856671_01
Pedigrees of the affected families, Audiograms and PCR-RFLP. (A) Pedigrees of three affected families with non-syndromic hearing loss. Arrows denote the probands. (B) Audiograms of the affected probands from the 3 Yemeni families: (o) indicates air conduction for right ear, (x) indicates air conduction for left ear. (C) Results of the PCR-RFLP analysis in YMNII and YMNIII affected families. The 987 PCR product digested with the AvaII restriction enzyme. The wildtype allele is cleaved into three fragments 558, 348, and 81 bp, whereas the c.414G>A mutant allele is cleaved into two fragments 906 and 81 bp in length. ND, undigested PCR product.
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In this study, we investigated three consanguineous Yemeni families diagnosed with ARNSHL ( Figure 1A ). Her audiogram showed an average pure tone air conduction (PTA) varying from 60-80 for her left and right ears ( Figure 1 ) and the otoscopy of both ears was normal. The proband's younger sister (YMN3) is 23 years old and showed an average PTA of 70-80; her otoscopy was also normal ( Supplementary Figure 1 ). Moreover, the proband's third sister, brother and parents are phenotypically normal ( Figure 1  and  Supplementary Figure 1 ). The last family YMN-III consisted of two affected female siblings YMN8 and YMN9 (25 and 29 years old respectively) with PTA of 100, 90-100 for left and right ears ( Figure 1  and  Supplementary Figure 1 ), the otoscopy result for both affected females was normal.