ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
15877281 MacDermot et al. (2005) identified a heterozygous C-to-T transition in exon 7 of the FOXP2 gene, resulting in an arg328-to-ter (R328X) substitution, in 2 siblings with verbal apraxia and their mother, who was described as having a history of "speech problems." The R328X mutation was not identified in 252 control chromosomes.

Haploinsufficiency phenotype comments:

There have been several reports of large deletions and genomic rearrangements involving the FOXP2 gene (as well as other genes) in individuals with speech apraxia (PMIDs: 22144704, 22106036, 22105961, 17033973, 16470794, etc.), as well as reported missense and other sequence changes within the gene (11586359, 20923434, 15737702). However, as none of these deletions are focal, and it cannot be definitiviely stated that the sequence level changes result in loss of gene function, a haploinsufficiency score of "1" has been given at this time.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity