A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic loss. Here, we investigate the genetic etiology of deafness two GJB2 GJB6 negative patients presenting pre-lingual, progressive, severe Methods Targeted exome sequencing (TES) using Next Generation Illumina Sequencing was used to analyze exonic some other important genomic regions 154 proband. Subsequently, mutation found confirmed by Sanger affected sibling healthy family members. The possible impact reported on corresponding protein also evaluated bioinformatics tools. Moreover, underwent audiological ophthalmic evaluations. Results TES identified a novel homozygous missense c.251T>C (p.I84T) exon 3 PDZD7 gene. In addition, segregation phenotype-genotype correlation analysis as well in-silico evaluations autosomal inheritance pattern disease-causing nature found. Conclusions overall, our finding could expand pathogenic mutations spectrum strengthens clinical importance gene ARNSHL patients. It can aid conduct counseling, prenatal diagnosis management these types disorders.