A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms

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Abstract
We ascertained a consanguineous family from the United Arab Emirates (UAE) comprising five subjects with severe-profound prelingual NSSNHL. Genomic DNA was extracted from peripheral blood samples using standard non-organic procedures. A genome wide search using the CHLC/Weber Human Screening set, version 8 (Research Genetics) was undertaken. PCR reactions were performed according to the manufacturer's instructions. This defined a ∼13 cM autozygous region on chromosome 2p23, delimited by the microsatellite markers D2S272 and D2S2347. The linkage interval incorporated the DFNB9 critical region (MIM 601071). Previously, mutations in the otoferlin (OTOF) gene were shown to cause NSSNHL at the DFNB9 locus (MIM 603681, table 1).4 5 More recently, however, further analysis of the OTOFtranscript has shown the existence of both short and long isoforms.6 Short isoforms are encoded by 28 exons.4 Long isoforms are derived from the alternative splicing of 19 additional 5′ exons.6 Analysis of the newly characterised 5′ exons in a DFNB9 family has led to the identification of the third OTOF mutation (table1).

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