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Article

Phenotypes of AKT3 deletion: a case report and literature review.

American journal of medical genetics. Part A - 1 Jan 2015

Gai Dayu, Haan Eric, Scholar Matthew, Nicholl Jillian, Yu Sui

Abstract excerpt

AKT3 (v-akt murine thymoma viral oncogene homolog 3) is located at chromosome 1q44 and encodes a 479 amino acid protein, a member of the protein kinase B (PKB) family. This gene is frequently involved in 1q44 deletion syndrome in patients with microcephaly, intellectual disability, and dysmorphic features. Phenotype and genotype studies of patients with 1q44 deletion syndrome have suggested that deletion of the...

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Source

Identifiers

PMID: 25424989
DOI: 10.1002/ajmg.a.36710

Genes

AKT3

Provenance

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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Phenotypes of AKT3 deletion: a case report and literature review.PMID 25424989Read ↗

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Semantic proximity Read ↗

Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly.Semantic proximity Read ↗

Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly.Semantic proximity Read ↗

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.Semantic proximity Read ↗

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