The first sporadic case of DFNA11 identified by next-generation sequencing.

Yuka Kaneko, Atsuko Nakano, Yukiko Arimoto, Kiyomitsu Nara, Hideki Mutai, Tatsuo Matsunaga

International journal of pediatric otorhinolaryngology 2017 Sep

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We report the first sporadic case of nonsyndromic autosomal dominant hearing loss (DFNA11). The patient was a 5-year-old boy with moderate bilateral hearing loss. Targeted next-generation sequencing analysis of patient DNA identified a known heterozygous DFNA11 mutation, c.689C > T, in MYO7A, encoding p.Ala230Val. The mutation was not detected in the parents of the patient and is considered to be de novo. This mutation is identical to the one reported previously in an Italian family. Accumulation of mutation data increases the feasibility of identifying autosomal dominant mutations in sporadic sensorineural hearing loss. Copyright © 2017 Elsevier B.V. All rights reserved.

Citation

Yuka Kaneko, Atsuko Nakano, Yukiko Arimoto, Kiyomitsu Nara, Hideki Mutai, Tatsuo Matsunaga. The first sporadic case of DFNA11 identified by next-generation sequencing. International journal of pediatric otorhinolaryngology. 2017 Sep;100:183-186