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Article

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

American journal of medical genetics. Part A - 1 Apr 2017

Takagi Masaki, Dobashi Kazushige, Nagahara Keiko, Kato Mitsuhiro, Nishimura Gen, Fukuzawa Ryuji, Narumi Satoshi, Hasegawa Tomonobu

Abstract excerpt

Germline or somatic gain-of-function mutations in the v-akt murine thymoma viral oncogene homolog 3 (AKT3) have been reported to cause syndromic megalencephaly. We describe a novel germline mutation, p.Glu40Lys, in AKT3. Phenotypically, the patient presented with megalencephaly with hypotonia, apparent connective tissue laxity, and growth hormone (GH) deficiency. To our knowledge, this is the first instance of a...

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Identifiers

PMID: 28190287
DOI: 10.1002/ajmg.a.38099

Genes

AKT3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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