期刊
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
卷 35, 期 5, 页码 675-681出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10803-005-0011-z
关键词
autism; X inactivation; females; AGRE
资金
- NICHD NIH HHS [R01 HD041672] Funding Source: Medline
Autism is a heterogeneous neurodevelopmental disorder with a 3-4 times higher sex ratio in males than females. X chromosome genes may contribute to this higher sex ratio through unusual skewing of X chromosome inactivation. We studied X chromosome skewness in 30 females with classical autism and 35 similarly aged unaffected female siblings as controls using the polymorphic androgen receptor (AR) gene. Significantly, increased X chromosome skewness (e.g., > 80:20%) was detected in our autism group (33%) compared to unaffected females (11%). X chromosome skewness was also seen in 50% of the mothers with autistic daughters. No mutation was seen in the promoter region of the XIST gene reported to be involved in X chromosome inactivation in our subjects. X chromosome skewness has been reported in female carriers of other neurological disorders such as X-linked mental retardation, adrenoleukodystrophy and Rett syndrome.
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