A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect.

ABSTRACT: Haploinsufficiency of FOXP2 causes FOXP2-related speech and language disorder. We report a 9.8 Mb deletion downstream of FOXP2 in a girl with speech and language impairment, developmental delay, and other features. We propose involvement of FOXP2 in pathogenesis of these phenotypes, likely due to positional effects on the gene.

SUBMITTER: Iwata-Otsubo A 

PROVIDER: S-EPMC9675869 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature