Ontology highlight
ABSTRACT:
SUBMITTER: Popp B
PROVIDER: S-EPMC4402627 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Popp Bernt B Støve Svein I SI Endele Sabine S Myklebust Line M LM Hoyer Juliane J Sticht Heinrich H Azzarello-Burri Silvia S Rauch Anita A Arnesen Thomas T Reis André A
European journal of human genetics : EJHG 20140806 5
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 excluded other variants in this gene. This X-linked gene encodes N-alpha-acetyltransfer ...[more]