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

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

doi:10.1002/ajmg.a.37070

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

Journal article

Peer reviewed

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

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

American Journal of Medical Genetics: Part A, Vol.167(7), pp.1659-1667

2015

DOI: https://doi.org/10.1002/ajmg.a.37070

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Abstract

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 and that (ii) the disease biology, functional analyses in this family, and studies on the tuberous sclerosis complex support consideration of an mTOR inhibitor as a therapeutic agent.

Details

Title: A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces
Authors/Creators: G. Baynam (Author/Creator) - King Edward Memorial Hospital
A. Overkov (Author/Creator) - King Edward Memorial Hospital
M. Davis (Author/Creator) - The University of Western Australia
K. Mina (Author/Creator) - The University of Western Australia
L. Schofield (Author/Creator) - Murdoch University
R. Allcock (Author/Creator)
N. Laing (Author/Creator) - Harry Perkins Institute of Medical Research
M. Cook (Author/Creator) - Canberra Hospital
H. Dawkins (Author/Creator) - The University of Western Australia
J. Goldblatt (Author/Creator) - The University of Western Australia
Publication Details: American Journal of Medical Genetics: Part A, Vol.167(7), pp.1659-1667
Publisher: Wiley
Identifiers: 991005540337607891
Copyright: © 2015 Wiley Periodicals, Inc.
Murdoch Affiliation: Centre for Comparative Genomics
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.25 Molecular & Cell Biology - Cancer, Autophagy & Apoptosis; 1.25.803 PI3K/AKT/mTOR Pathway
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics