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01-10-2005 | Uitgave 5/2005

Brief Report: Non-Random X Chromosome Inactivation in Females with Autism

Tijdschrift:: Journal of Autism and Developmental Disorders > Uitgave 5/2005

Auteurs:: Z. Talebizadeh, D. C. Bittel, O. J. Veatch, N. Kibiryeva, M. G. Butler

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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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Titel: Brief Report: Non-Random X Chromosome Inactivation in Females with Autism
Auteurs:: Z. Talebizadeh
D. C. Bittel
O. J. Veatch
N. Kibiryeva
M. G. Butler
Publicatiedatum: 01-10-2005
DOI: https://doi.org/10.1007/s10803-005-0011-z
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Uitgave 5/2005
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

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