Article
Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.
The Annals of otology, rhinology, and laryngology - 1 May 2015
Miyagawa Maiko, Nishio Shin-Ya, Ichinose Aya, Iwasaki Satoshi, Murata Takaaki, Kitajiri Shin-Ichiro, Usami Shin-Ichi
Abstract excerpt
OBJECTIVES: ACTG1 has been reported to be a causative gene for autosomal dominant sensorineural hearing loss, DFNA20/26. In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations. METHODS: Massively parallel DNA sequencing (MPS) of 63 target candidate genes was used to screen 1120 Japanese hearing loss patients. RESULTS: MPS screening successfully...
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