Mutation screening of FOXP2 in individuals diagnosed with autistic disorder

  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},
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
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.

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.

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

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

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

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

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

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.



A forkhead-domain gene is mutated in a severe speech and language disorder

It is suggested that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is involved in the developmental process that culminates in speech and language.

Chromosome 7q: where autism meets language disorder?

On the basis of combined data from three population-based twin studies, the concordance rate for MZ twins is estimated to be ∼65%, contrasted with a concordances rate of 0% in DZ twins (Bailey et al. 1995), and genetic modeling based on these data has been consistent with a model of oligogenic inheritance with epistasis.

An autosomal genomic screen for autism.

The strongest multipoint results were for regions on chromosomes 13 and 7, and the highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 under the recessive model.

Polyglutamine-containing proteins in schizophrenia

Genetic anticipation, manifested by increased severity and earlier age-at-onset of the disease over successive generations, is reported in schizophrenia. The molecular basis of anticipation in

Genetics of austim: complex aetiology for a heterogeneous disorder

The identification of chromosomal abnormalities and Mendelian syndromes among individuals with autism, in conjunction with data from genome screens and candidate-gene studies, has helped to refine the view of the complex genetics that underlies autism spectrum conditions.

A genomic screen of autism: evidence for a multilocus etiology.

The results suggest that positional cloning of susceptibility loci by linkage analysis may be a formidable task and that other approaches may be necessary.

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.

A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium, and a region on chromosome 7q was the most significant.

Genome-Wide Scan for Autism Susceptibility Genes

A genome-wide screen with 264 microsatellites markers in 51 multiplex families revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp, and found that the most significant multipoint linkage was close to marker D6S283.

Pervasive developmental disorders: a 10-year review.

  • P. Tanguay
  • Medicine, Psychology
    Journal of the American Academy of Child and Adolescent Psychiatry
  • 2000
Clinical and genetic studies support expansion of the concept of autism to include a broader spectrum of social communication handicaps and private and government agencies must continue to support basic and applied research.

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.

A genome-wide screen with 264 microsatellites markers in 51 multiplex families revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp, and found that the most significant multipoint linkage was close to marker D6S283.