Genetics of Learning Disability Service of New South Wales

Newcastle, Australia

Genetics of Learning Disability Service of New South Wales

Newcastle, Australia
SEARCH FILTERS
Time filter
Source Type

Shoubridge C.,Genetics and Molecular Pathology | Shoubridge C.,University of Adelaide | Tarpey P.S.,Wellcome Trust Sanger Institute | Abidi F.,Jc Self Research Institute | And 19 more authors.
Nature Genetics | Year: 2010

The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing. © 2010 Nature America, Inc. All rights reserved.


Shoubridge C.,Womens and Childrens Hospital | Shoubridge C.,University of Adelaide | Gardner A.,Womens and Childrens Hospital | Schwartz C.E.,Jc Self Research Institute | And 4 more authors.
European Journal of Human Genetics | Year: 2012

Intellectual disability is common. Aristaless-related homeobox (ARX) gene is one of the most frequently mutated and pleiotropic genes, implicated in 10 different phenotypes. More than half of ∼100 reported cases with ARX mutations are due to a recurrent duplication of 24 bp, c.429-452dup, which leads to polyalanine tract expansion. The excess of affected males among the offspring of the obligate carrier females raised the possibility of transmission ratio distortion for the c.429-452dup mutation. We found a significant deviation from the expected Mendelian 1:1 ratio of transmission in favour of the c.429-452dup ARX mutation. We hypothesise that the preferential transmission of the c.429-452dup mutation may be due to asymmetry of meiosis in the oocyte. Our findings may have implications for genetic counselling of families segregating the c.429-452dup mutation and allude to putative role of ARX in oocyte biology. © 2012 Macmillan Publishers Limited All rights reserved.

Loading Genetics of Learning Disability Service of New South Wales collaborators
Loading Genetics of Learning Disability Service of New South Wales collaborators