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

Aiko Iwata-Otsubo; Victoria H Klee; Aaliya A Ahmad; Laurence E Walsh; Amy M Breman

doi:10.1002/ccr3.6535

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

Clin Case Rep. 2022 Nov 19;10(11):e6535. doi: 10.1002/ccr3.6535. eCollection 2022 Nov.

Authors

Aiko Iwata-Otsubo¹, Victoria H Klee², Aaliya A Ahmad¹, Laurence E Walsh^{1

2

3}, Amy M Breman¹

Affiliations

¹ Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA.
² Department of Neurology, Section of Child Neurology Indiana University School of Medicine Indianapolis Indiana USA.
³ Department of Pediatrics Indiana University School of Medicine Indianapolis Indiana USA.

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.

Keywords: 7q31; CMA; FOXP2; deletion; language; positional effect; speech.

Publication types

Case Reports