Skip navigation
Skip navigation

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

Baynam, G; overkov, A; Davis, M.; Mina, K; Schofield, L; Allcock, R; Laing, N; Cook, Matthew; Dawkins, H; Goldblatt, J


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, familial MTOR mutation. We describe the findings in this family to highlight that (i) the path to determination of pathogenicity was confounded by the lack of genomic reference data for Australian Aboriginals...[Show more]

CollectionsANU Research Publications
Date published: 2015
Type: Journal article
Source: American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.37070


File Description SizeFormat Image
01_Baynam_A_germline_MTOR_mutation_in_2015.pdf2.65 MBAdobe PDF    Request a copy

Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.

Updated:  19 May 2020/ Responsible Officer:  University Librarian/ Page Contact:  Library Systems & Web Coordinator