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Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/73698

Type: Journal article
Title: Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
Author: Shoubridge, Cheryl Ann
Gardner, Alison E.
Schwartz, Charles E.
Hackett, Anna
Field, Michael J.
Gecz, Jozef
Citation: European Journal of Human Genetics, 2012; 20:1311-1314
Publisher: Nature Publishing Group
Issue Date: 2012
ISSN: 1018-4813
School/Discipline: School of Paediatrics and Reproductive Health : Paediatrics
Statement of
Responsibility: 
Cheryl Shoubridge, Alison Gardner, Charles E. Schwartz, Anna Hackett, Michael Field and Jozef Gecz
Abstract: 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.
Keywords: intellectual disability; polyalanine tract expansions; Mendelian transmission; ARX; meiotic drive
Description: Advance online publication 11 April 2012
Rights: © 2012 Macmillan Publishers Limited. All rights reserved
RMID: 0020122030
DOI: 10.1038/ejhg.2012.61
Appears in Collections:Paediatrics Publications
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