Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5589969 | Gene Reports | 2017 | 4 Pages |
Abstract
Loss-of-function of OTOA (16p12.2) is a rare cause of non-syndromic prelingual hearing loss. The impairment is usually moderate to profound and the mode of inheritance is autosomal recessive. The affected patients usually share a homozygous deletion of the gene, whereas point mutations are occasionally described. In this report we describe two sibs with prelingual, bilateral, severe hearing loss, who are compound heterozygous for the deletion of a copy of a gene, detected by SNP-Array, and a not previously described missense mutation (1865Â TÂ >Â A), detected by Next Generation Sequencing.
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Genetics
Authors
P. Fontana, M. Morgutti, V. Pecile, S. Lenarduzzi, S. Cappellani, M. Falco, F. Scarano, F. Lonardo,