Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
There is some anecdotal evidence that mutations of the MECP2 gene are involved in the development of autism.
Autism
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Aniridia-Wilms-tumor syndrome
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Intellectual disability-severe speech delay-mild dysmorphism syndrome
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Williams-Beuren syndrome
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X-linked susceptibility to autism 3
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MECP2
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| 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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| 9. |
OMIM.ORG article Omim 300496
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