A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces

A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces

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...

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Bibliographic Details
Main Authors: Baynam, G., Overkov, A., Davis, M., Mina, K., Schofield, L., Allcock, R., Laing, N., Cook, M., Dawkins, Hugh, Goldblatt, J.
Format: Journal Article
Published: John Wiley & Sons, Inc. 2015
Subjects:
megalencephaly
mTOR
indigenous
rapamycin
repurposing
Aboriginal
RASopathy
Online Access:http://hdl.handle.net/20.500.11937/3184

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