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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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
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author Iwata‐Otsubo, Aiko
Klee, Victoria H.
Ahmad, Aaliya A.
Walsh, Laurence E.
Breman, Amy M.
author_facet Iwata‐Otsubo, Aiko
Klee, Victoria H.
Ahmad, Aaliya A.
Walsh, Laurence E.
Breman, Amy M.
author_sort Iwata‐Otsubo, Aiko
collection PubMed
description 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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spelling pubmed-96758692022-11-21 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 Iwata‐Otsubo, Aiko Klee, Victoria H. Ahmad, Aaliya A. Walsh, Laurence E. Breman, Amy M. Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-11-19 /pmc/articles/PMC9675869/ /pubmed/36415709 http://dx.doi.org/10.1002/ccr3.6535 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Iwata‐Otsubo, Aiko
Klee, Victoria H.
Ahmad, Aaliya A.
Walsh, Laurence E.
Breman, Amy M.
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 9.8 mb deletion at 7q31.2q31.31 downstream of foxp2 in an individual with speech and language impairment suggests a possible positional effect
topic Case Report
url 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
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