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|Title:||Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?|
|Citation:||European Journal of Human Genetics, 2012; 2012(12):1-4|
|Publisher:||Nature Publishing Group|
|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|
|Appears in Collections:||Paediatrics publications|
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