Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44
Article first published online: 21 JUN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 2016–2019, August 2013
How to Cite
2013. Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. Am J Med Genet Part A. 161A:2016–2019., , , .
- Issue published online: 24 JUL 2013
- Article first published online: 21 JUN 2013
- Manuscript Accepted: 28 MAR 2013
- Manuscript Received: 10 JAN 2013
- intellectual disability
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.