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Article

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

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

Baynam Gareth, Overkov Angela, Davis Mark, Mina Kym, Schofield Lyn, Allcock Richard, Laing Nigel, Cook Matthew, Dawkins Hugh, Goldblatt Jack

Abstract excerpt

We report on three Aboriginal Australian siblings with a unique phenotype which overlaps with known megalencephaly syndromes and RASopathies, including Costello syndrome. A gain-of-function mutation in MTOR was identified and represents the first reported human condition due to a germline, famili...

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Source

Identifiers

PMID: 25851998
DOI: 10.1002/ajmg.a.37070

Genes

MTOR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25851998-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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