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https://hdl.handle.net/2440/73698
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Type: | Journal article |
Title: | Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? |
Author: | Shoubridge, C. Gardner, A. Schwartz, C. Hackett, A. Field, M. Gecz, J. |
Citation: | European Journal of Human Genetics, 2012; 2012(12):1-4 |
Publisher: | Nature Publishing Group |
Issue Date: | 2012 |
ISSN: | 1018-4813 1476-5438 |
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 |
DOI: | 10.1038/ejhg.2012.61 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/400121 http://purl.org/au-research/grants/nhmrc/508043 http://purl.org/au-research/grants/nhmrc/408402 http://purl.org/au-research/grants/nhmrc/1002732 |
Published version: | http://dx.doi.org/10.1038/ejhg.2012.61 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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