Mutation screening of FOXP2 in individuals diagnosed with autistic disorder

@article{Gauthier2003MutationSO,
  title={Mutation screening of FOXP2 in individuals diagnosed with autistic disorder},
  author={Julie Gauthier and Ridha Joober and Laurent Mottron and Sandra B. Laurent and Marketa Fuchs and Violaine De Kimpe and Guy A. Rouleau},
  journal={American Journal of Medical Genetics Part A},
  year={2003},
  volume={118A}
}
Although it is well established that genetic factors play an important role in the etiology of autistic disorder (AD), no specific genes have as yet been implicated. Genetic epidemiological data, particularly the sharp fall in concordance rates from monozygotic to dizygotic twins, indicate that the mode of transmission of this disorder is complex and may involve several genes. The 7q31 locus has been repeatedly linked to AD, suggesting that this chromosomal region is likely to harbor a… 

Association between the FOXP2 gene and autistic disorder in Chinese population

  • Xiaohong GongMeixiang Jia Dai Zhang
  • Biology
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2004
TLDR
A family‐based association study of three single nucleotide polymorphisms of FOXP2 in 181 Chinese Han trios found a significant association between autistic disorder and one SNP, as well as with specific haplotypes formed by this SNP with two other SNPs the authors investigated.

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.

TLDR
Investigation of the entire coding region of FOXP2, including alternatively spliced exons, in 49 probands affected with verbal dyspraxia and the discovery of the first nonsense mutation in FoxP2 opens the door for detailed investigations of neurodevelopment in people carrying different etiological variants of the gene.

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Screening of a control population for novel coding variants in CACNA1C, CDKL5, HOXA1, SHANK3, T SC1, TSC2 and UBE3A by the same sequencing technology revealed that controls were carriers of oligogenic heterozygous events at significantly (P < 0.01) lower rate, suggesting oligogenic heterogeneity as a new potential mechanism in the pathogenesis of ASDs.

Family-based association study of DYX1C1 variants in autism

TLDR
The allelic distribution of the DYX1C1 gene was analyzed by family-based association method in 100 Finnish autism families: no evidence for association was observed with any intragenic marker or with haplotypes constructed from alleles of several adjacent markers.

Analysis of two language-related genes in autism: a case–control association study of FOXP2 and CNTNAP2

TLDR
The results of this study suggest that common variants of FOXP2 are unlikely to contribute to autism susceptibility, in agreement with previous findings.

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

TLDR
The phenotypic consequences of FOXP1 and FOXP2 impairment are compared, drawing on well-known studies from the past as well as recent exciting findings and consider what these tell us regarding the functions of these two genes in neural development.

Association study of the CNS patterning genes and autism in Han Chinese in Taiwan

FOXP2 polymorphisms in patients with schizophrenia

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

TLDR
It is found that FOXP2 variants with reduced polyglutamine tracts did not exhibit altered behaviour in cellular assays, indicating that such tracts are non-essential for core aspects ofFOXP2 function, and that tract variation is unlikely to be a highly penetrant cause of speech/language disorder.
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