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

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 po...

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Detalles Bibliográficos
Autores principales: Iwata‐Otsubo, Aiko, Klee, Victoria H., Ahmad, Aaliya A., Walsh, Laurence E., Breman, Amy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9675869/
https://www.ncbi.nlm.nih.gov/pubmed/36415709
http://dx.doi.org/10.1002/ccr3.6535
Descripción
Sumario: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.

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