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Duplication of AKT 3 as a cause of macrocephaly in duplication 1q43q44
Author(s) -
Wang David,
Zeesman Susan,
Tarnopolsky Mark A.,
Nowaczyk Małgorzata J.M.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35999
Subject(s) - macrocephaly , megalencephaly , frontal bossing , gene duplication , hemimegalencephaly , hypertelorism , biology , genetics , anatomy , neuroscience , gene , epilepsy , cortical dysplasia
Somatic and germline duplications of AKT3 and activating mutations of this gene have been reported in individuals with megalencephaly and hemimegalencephaly. We report on a patient with macrocephaly and a 3 Mb duplication on 1q43q44 that includes AKT3 . This duplication was detected by array comparative genomic hybridization. The patient presented with moderate developmental delays in gross motor movements and speech. She also had macrocephaly, frontal bossing, hypertelorism, wide nasal bridge, small alae nares, short philtrum, prominent upper lip, and low‐set, protruding ears. The 3 Mb duplicated region contained 15 genes including AKT3 . The observation of megalencephaly in a child with 1q43q44 duplication provides further evidence of involvement of AKT3 dosage imbalances in brain growth disturbance. © 2013 Wiley Periodicals, Inc.