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

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, enc...

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Veröffentlicht in:	International journal of pediatric otorhinolaryngology 2017-09, Vol.100, p.183-186
Hauptverfasser:	Kaneko, Yuka, Nakano, Atsuko, Arimoto, Yukiko, Nara, Kiyomitsu, Mutai, Hideki, Matsunaga, Tatsuo
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool de novo DFNA11 Hearing Loss, Sensorineural - genetics Heterozygote High-Throughput Nucleotide Sequencing - methods Humans Male Mutation MYO7A Myosins - genetics Nonsyndromic hearing loss Pediatric Pedigree
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