Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review

  title={Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review},
  author={Patrick A. Lennon and Mitchell Lance Cooper and Daniel A. Peiffer and Kevin L. Gunderson and A. Patel and Sarika U. Peters and Sau Wai Cheung and Carlos A. Bacino},
  journal={American Journal of Medical Genetics Part A},
We report on a young male with moderate mental retardation, dysmorphic features, and language delay who is deleted for 7q31.1‐7q31.31. His full karyotype is 46,XY,der(7)del(7)(q31.1q31.31)ins(10;7)(q24.3;q31.1q31.31)mat. This child had language impairment, including developmental verbal dyspraxia, but did not meet criteria for autism according to standardized ADOS testing. Our patient's deletion, which is the smallest reported deletion including FOXP2, adds to the body of evidence that supports… 

Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia

This is the first report on schizophrenia associated with a 7q31 microdeletion, and it is suspected that the disruptions of these one or plural genes among the interstitial deletion of 7Q31.1q31.3 may be involved in the development of schizophrenia in this woman.

Mosaic 7q31 Deletion Involving FOXP2 Gene Associated With Language Impairment

It is suggested that children found with a deletion involving the FOXP2 region should be evaluated for CAS and that analysis of the FoxP2 gene including array comparative genomic hybridization should be considered in selected patients with CAS.

Phenotype of FOXP2 haploinsufficiency in a mother and son

Clinical findings for two new individuals with a submicroscopic deletion of FOXP2, a transcription factor, are reported on: a boy with severe apraxia of speech and his currently moderately affected mother, which provide informative phenotypic information on FoxP2 haploinsufficiency.

7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder

The close phenotypic overlap with FOXP2‐associated speech and language disorder rather suggests a positional effect on FoxP2 expression and function.

Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene

The importance of a targeted MLPA analysis suitable for the detection of FOXP2 deletion in selected cases with a specific phenotype of expressive speech disorder is illustrated and the “phenotype first” and targeted diagnostic strategy can improve the diagnostic yield of speech disorders in the routine clinical practice.

Communication deficits in a case of a deletion in 7q31.1-q31.33 encompassing FOXP2.

Copy number variants (CNVs) found in individuals with communication deficits provide a valuable window to the genetic causes of problems with language and, more generally, to the genetic foundation

Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features

A comprehensive review of the literature surrounding intermediate 7q deletions that overlap with this child's deletion is presented, and an analysis of candidate genes in the deleted region is presented.

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

This is the first report of a small intragenic deletion of FOXP2 that is likely to be the cause of severe motor speech disorder associated with language and literacy problems.

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

By identifying intragenic deletions or mutations in 14 individuals from eight unrelated families with variable developmental delay/cognitive impairment and speech and language deficits, this work considerably broaden the mutational and clinical spectrum associated with aberrations in FOXP2.

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

It is concluded that FOXP1 mutations are unlikely to represent a major cause of DVD, as investigations of songbird orthologues indicate that combinatorial actions of the two proteins may play important roles in vocal learning.



Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

It is proposed that this patient's communication disorder and oromotor deficiency are due to haploinsufficiency for FOXP2 and that her dysmorphism and developmental delay are a consequence of the absence of the other genes involved in the microdeletion.

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

The results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7, and point to a role for differential parent-of-origin expression ofFOXP2 in human speech development.

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array‐CGH

This study has shown the importance of array‐CGH in investigating patients who have clinical features suggestive of a chromosome abnormality, but with apparently balanced chromosome rearrangements and demonstrated that the array-CGH technique provides a much greater insight into submicroscopic chromosome imbalances than conventional cytogenetic techniques.

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.

Genetic studies of autistic disorder and chromosome 7.

The identified AD family in which three sibs inherited from their mother a paracentric inversion in the chromosome 7 candidate region provides further evidence for the presence of an AD locus on chromosome 7q, as well as evidence suggesting that this locus may be paternally expressed.

Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31.

Two individuals are presented with different, apparently balanced chromosome rearrangements involving a breakpoint at 7q31, and the findings may be of interest and relevance to the genetic aetiology of autism, and helpful in the search for susceptibility loci for SDDSL and autism.

No association between the WNT2 gene and autistic disorder.

It is concluded that activating mutations of the WNT2 gene are not a major contributor to the development of autistic disorder in these data, and differences in allele frequencies of the 3' UTR single nucleotide polymorphism between the present population and that of Wassink et al. may account for the inability to detect association between W NT2 and autistic disorder.

Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases.

Evidence for the localization of the Kidd blood group gene on chromosome 7 distal to band q32, as suggested by previous reports, is reviewed and it is concluded that the evidence does not warrant placement of the gene in this region of the genome.

Evidence supporting WNT2 as an autism susceptibility gene.

It is hypothesize that rare mutations occur in the WNT2 gene that significantly increase susceptibility to autism even when present in single copies, while a more common W NT2 allele (or alleles) not yet identified may exist that contributes to the disorder to a lesser degree.