Authors
Xiaohong Gong, Elena Bacchelli, Francesca Blasi, Claudio Toma, Catalina Betancur, Pauline Chaste, Richard Delorme, Christelle M Durand, Fabien Fauchereau, Hany Goubran Botros, Marion Leboyer, Marie‐Christine Mouren‐Simeoni, Gudrun Nygren, Henrik Anckarsäter, Maria Rastam, I Carina Gillberg, Christopher Gillberg, Daniel Moreno‐De‐Luca, Simona Carone, Ilona Nummela, Mari Rossi, Agatino Battaglia, International Molecular Genetic Study of Autism Consortium (IMGSAC), Irma Jarvela, Elena Maestrini, Thomas Bourgeron
Publication date
2008/9/5
Journal
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume
147
Issue
6
Pages
830-835
Publisher
Wiley Subscription Services, Inc., A Wiley Company
Description
Autism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X‐linked syndromes. In this study, we aimed to estimate the role of X‐linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 163 affected girls. The XCI pattern was also determined in two control groups (144 adult females and 40 young females) with a similar age distribution to the mothers sample and affected girls sample, respectively. We observed no significant excess of skewed XCI in families with ASD. Interestingly, two mothers and one girl carrying known mutations in X‐linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families …
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Scholar articles
X Gong, E Bacchelli, F Blasi, C Toma, C Betancur… - American Journal of Medical Genetics Part B …, 2008