BACKGROUND: Hereditary hearing loss is characterized by a very high genetic 
heterogeneity. The OTOF (Locus: DFNB9), encoding otoferlin, is reported to be 
one of the major causes of non-syndromic hearing loss, and is also reported to 
be the most common cause of non-syndromic recessive auditory neuropathy spectrum 
disorder.
METHODS: In this study, whole exome sequencing was employed for detection of 
novel pathogenic variant that segregates with autosomal recessive nonsyndromic 
hearing loss in a tribal family from Rajouri, Jammu and Kashmir. Proband was a 
9-year-old male born to first-cousin parents and presented with sensorineural 
hearing loss since birth. Family resides in an area with high consanguinity and 
lack of basic health care facilities including genetic counselling services.
RESULTS: We report a novel OTOF pathogenic variant NM_194248.2:c.4249_4250insG 
(p.Ser1417CysfsTer4) co-segregating with hearing loss in this family and not 
present in any public databases.
CONCLUSIONS: Our findings not only extend the geographical and mutational 
spectrum of autosomal recessive nonsyndromic hearing loss but also support the 
need for introducing genetic counselling services to rural and tribal areas in 
India with high consanguinity.