Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

X-chromosomale Veranlagung für Autismus

Es gibt einige Beobachtungen, dass Mutationen im MECP2-Gen eine Bedeutung für die Entwicklung eines Autismus haben können.

Gliederung

Autismus
Aniridie-Wilms-Tumor-Syndrom
Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
Williams-Beuren-Syndrome
X-chromosomale Veranlagung für Autismus
MECP2

Referenzen:

1.

Lam CW et. al. (2000) Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.

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2.

Vourc'h P et. al. (2001) No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

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3.

Carney RM et. al. (2003) Identification of MeCP2 mutations in a series of females with autistic disorder.

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4.

Yu TW et. al. (2013) Using whole-exome sequencing to identify inherited causes of autism.

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5.

Bailey A et. al. (1996) Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives.

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6.

Risch N et. al. (1999) A genomic screen of autism: evidence for a multilocus etiology.

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7.

Schellenberg GD et. al. (2006) Evidence for multiple loci from a genome scan of autism kindreds.

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8.

Jones JR et. al. (2008) Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.

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