A novel OTOA mutation in an Italian family with hearing loss

P. Fontana, M. Morgutti, V. Pecile, S. Lenarduzzi, S. Cappellani, M. Falco, F. Scarano, F. Lonardo

Research output: Contribution to journalArticlepeer-review

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 (1865 T > A), detected by Next Generation Sequencing.

Original languageEnglish
Pages (from-to)111-114
Number of pages4
JournalGene Reports
Volume9
DOIs
Publication statusPublished - Dec 1 2017

Keywords

  • Compound heterozygous
  • Hearing loss
  • Non-syndromic
  • OTOA
  • Otoancorin

ASJC Scopus subject areas

  • Genetics

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