Article
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Human mutation - 1 May 2014
Eisenberger Tobias, Di Donato Nataliya, Baig Shahid M, Neuhaus Christine, Beyer Anke, Decker Eva, Mürbe Dirk, Decker Christian, Bergmann Carsten, Bolz Hanno J
Abstract excerpt
MYO1A is considered the gene underlying autosomal dominant nonsyndromic hearing loss DFNA48, based on six missense variants, one small in-frame insertion, and one nonsense mutation. Results from NGS targeting 66 deafness genes in 109 patients identified three families challenging this assumption: two novel nonsense (p.Tyr740* and p.Arg262*) and a known missense variant were identified heterozygously not only in...
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