Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
Copyright policy )Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
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.
- Greenwood Genetic Center United States
- Women's and Children's Hospital Australia
- Boston Children's Hospital United States
- University of Adelaide Australia
Homeodomain Proteins, Male, Heterozygote, Alanine, Inheritance Patterns, meiotic drive, Pedigree, Meiosis, intellectual disability, Mutation, Oocytes, Mendelian transmission, Humans, Female, ARX, polyalanine tract expansions, Repetitive Sequences, Nucleic Acid, Transcription Factors
Homeodomain Proteins, Male, Heterozygote, Alanine, Inheritance Patterns, meiotic drive, Pedigree, Meiosis, intellectual disability, Mutation, Oocytes, Mendelian transmission, Humans, Female, ARX, polyalanine tract expansions, Repetitive Sequences, Nucleic Acid, Transcription Factors
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