Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44 Journal Articles

abstract

• AbstractSomatic 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.

authors

• Wang, David
• Zeesman, Susan
• Tarnopolsky, Mark
• Nowaczyk, Malgorzata

status

• published 

publication date

• August 2013

has subject area

• 0604 Genetics (FoR)
• 1103 Clinical Sciences (FoR)
• Adolescent (MeSH)
• Chromosomes, Human, Pair 1 (MeSH)
• Comparative Genomic Hybridization (MeSH)
• Developmental Disabilities (MeSH)
• Female (MeSH)
• Gene Duplication (MeSH)
• Humans (MeSH)
• Infant, Newborn (MeSH)
• Intellectual Disability (MeSH)
• Megalencephaly (MeSH)
• Phenotype (MeSH)
• Proto-Oncogene Proteins c-akt (MeSH)

published in

• American Journal of Medical Genetics, Part A  Journal

keywords

• 1q43q44
• AKT3
• Adolescent
• Chromosomes, Human, Pair 1
• Comparative Genomic Hybridization
• Developmental Disabilities
• Female
• Gene Duplication
• Humans
• Infant, Newborn
• Intellectual Disability
• Megalencephaly
• Phenotype
• Proto-Oncogene Proteins c-akt
• duplication
• intellectual disability
• macrocephaly

Digital Object Identifier (DOI)

• 10.1002/ajmg.a.35999

PubMed ID

• 23794269

start page

• 2016

end page

• 2019

volume

• 161

issue

• 8