Report of a Novel Splicing Mutation in the Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the Mutations.

INTRODUCTION

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder with an approximate incidence of 1.4:1000 in neonates. Mutations in more than 60 genes including the gene has been reported in patients affected with ARNSHL. In the present study, we report a novel mutation identified by clinical exome sequencing and confirmed by Sanger sequencing in a consanguineous Iranian family with ARNSHL.

CASE PRESENTATION

A 22-year-old woman with congenital non-syndromic sensorineural hearing loss referred to our medical genetic center. Her parents were consanguineous with F = 1/16 (first cousin), and clinical examination of the patient exclude dysmorphic features. Sanger sequencing of and genes, which are the most common causes of ARNSHL, was negative. Then she underwent clinical exome sequencing.

OUTCOME

We found a novel homozygote variant (c.9611_9612+8delTGGTGAGCAT) in the gene which creates a shift in the reading frame starting at codon 3204. This variant was confirmed by Sanger sequencing in the patient and also in her parents who were heterozygous.

DISCUSSION

The present results suggest that the homozygous (c.9611_9612+8delTGGTGAGCAT) variant is a pathogenic mutation and to the best of our knowledge, this mutation has not been reported in any database.