PubMed ID | Description |
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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. |
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.