Show simple item record

dc.contributor.authorBaynam, G.
dc.contributor.authorOverkov, A.
dc.contributor.authorDavis, M.
dc.contributor.authorMina, K.
dc.contributor.authorSchofield, L.
dc.contributor.authorAllcock, R.
dc.contributor.authorLaing, N.
dc.contributor.authorCook, M.
dc.contributor.authorDawkins, Hugh
dc.contributor.authorGoldblatt, J.
dc.date.accessioned2017-01-30T10:29:16Z
dc.date.available2017-01-30T10:29:16Z
dc.date.created2015-08-24T20:00:42Z
dc.date.issued2015
dc.identifier.citationBaynam, G. and Overkov, A. and Davis, M. and Mina, K. and Schofield, L. and Allcock, R. and Laing, N. et al. 2015. A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces. American Journal of Medical Genetics. Part A. 167 (7) : pp. 1659-1667.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/3184
dc.identifier.doi10.1002/ajmg.a.37070
dc.description.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.

dc.publisherJohn Wiley & Sons, Inc.
dc.subjectmegalencephaly
dc.subjectmTOR
dc.subjectindigenous
dc.subjectrapamycin
dc.subjectrepurposing
dc.subjectAboriginal
dc.subjectRASopathy
dc.titleA Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces
dc.typeJournal Article
dcterms.source.volume167A
dcterms.source.startPage1659
dcterms.source.endPage1667
dcterms.source.issn1552-4825
dcterms.source.titleAmerican Journal of Medical Genetics. Part A
curtin.departmentCentre for Population Health Research
curtin.accessStatusFulltext not available


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record