Skip to Main content Skip to Navigation
Journal articles

Analysis of X chromosome inactivation in autism spectrum disorders.

Abstract : 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 with X-linked mutations. Linkage analysis was carried out in the subgroup of multiplex families with skewed XCI (> or = 80:20) and a modest increased allele sharing was obtained in the Xq27-Xq28 region, with a peak Z-score of 1.75 close to rs719489. In summary, our results suggest that there is no major X-linked gene subject to XCI and expressed in blood cells conferring susceptibility to ASD. However, the possibility that rare mutations in X-linked genes could contribute to ASD cannot be excluded. We propose that the XCI profile could be a useful criteria to prioritize families for mutation screening of X-linked candidate genes.
Document type :
Journal articles
Complete list of metadatas

Cited literature [26 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-00276460
Contributor : Catalina Betancur <>
Submitted on : Saturday, January 21, 2012 - 12:49:04 PM
Last modification on : Wednesday, August 19, 2020 - 11:16:44 AM
Long-term archiving on: : Sunday, April 22, 2012 - 2:20:08 AM

File

Gong_X_inactivation_AJMG_2008....
Files produced by the author(s)

Identifiers

Citation

Xiaohong Gong, Elena Bacchelli, Francesca Blasi, Claudio Toma, Catalina Betancur, et al.. Analysis of X chromosome inactivation in autism spectrum disorders.. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Wiley, 2008, 147B (6), pp.830-5. ⟨10.1002/ajmg.b.30688⟩. ⟨inserm-00276460⟩

Share

Metrics

Record views

966

Files downloads

1309