Article
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
European journal of human genetics : EJHG - 1 May 2015
Popp Bernt, Støve Svein I, Endele Sabine, Myklebust Line M, Hoyer Juliane, Sticht Heinrich, Azzarello-Burri Silvia, Rauch Anita, Arnesen Thomas, Reis André
Abstract excerpt
Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. Both de novo variants were predicted to be deleterious, and we...
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