Unknown

Dataset Information

0

Brief report: non-random X chromosome inactivation in females with autism.


ABSTRACT: 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.

SUBMITTER: Talebizadeh Z 

PROVIDER: S-EPMC6744835 | biostudies-literature | 2005 Oct

REPOSITORIES: biostudies-literature

altmetric image

Publications

Brief report: non-random X chromosome inactivation in females with autism.

Talebizadeh Z Z   Bittel D C DC   Veatch O J OJ   Kibiryeva N N   Butler M G MG  

Journal of autism and developmental disorders 20051001 5


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  ...[more]

Similar Datasets

| S-EPMC1559535 | biostudies-literature
| S-EPMC6979883 | biostudies-literature
| S-EPMC6771397 | biostudies-literature
| S-EPMC2614877 | biostudies-literature
| S-EPMC4867005 | biostudies-literature
2019-02-08 | GSE126229 | GEO
| S-EPMC8495168 | biostudies-literature
| S-EPMC5489244 | biostudies-literature
| S-EPMC3083613 | biostudies-literature
| S-EPMC3836718 | biostudies-literature