Atypical Sotos syndrome caused by a novel splice site variant

Sotos syndrome is usually caused by haploinsufficiency of NSD1; it is characterized by overgrowth, craniofacial features, and learning disabilities. We describe a boy with Sotos syndrome caused by a splicing variant (c.4378+5G>A). The clinical manifestations included severe connective tissue invo...

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Autores principales: Minatogawa, Mari, Tsuji, Taichi, Inaba, Mie, Kawakami, Noriaki, Mizuno, Seiji, Kosho, Tomoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9666520/
https://www.ncbi.nlm.nih.gov/pubmed/36379925
http://dx.doi.org/10.1038/s41439-022-00219-4
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author Minatogawa, Mari
Tsuji, Taichi
Inaba, Mie
Kawakami, Noriaki
Mizuno, Seiji
Kosho, Tomoki
author_facet Minatogawa, Mari
Tsuji, Taichi
Inaba, Mie
Kawakami, Noriaki
Mizuno, Seiji
Kosho, Tomoki
author_sort Minatogawa, Mari
collection PubMed
description Sotos syndrome is usually caused by haploinsufficiency of NSD1; it is characterized by overgrowth, craniofacial features, and learning disabilities. We describe a boy with Sotos syndrome caused by a splicing variant (c.4378+5G>A). The clinical manifestations included severe connective tissue involvement, including joint hypermobility, progressive scoliosis, pectus deformity, and skin hyperextensibility; no overgrowth was observed.
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spelling pubmed-96665202022-11-17 Atypical Sotos syndrome caused by a novel splice site variant Minatogawa, Mari Tsuji, Taichi Inaba, Mie Kawakami, Noriaki Mizuno, Seiji Kosho, Tomoki Hum Genome Var Data Report Sotos syndrome is usually caused by haploinsufficiency of NSD1; it is characterized by overgrowth, craniofacial features, and learning disabilities. We describe a boy with Sotos syndrome caused by a splicing variant (c.4378+5G>A). The clinical manifestations included severe connective tissue involvement, including joint hypermobility, progressive scoliosis, pectus deformity, and skin hyperextensibility; no overgrowth was observed. Nature Publishing Group UK 2022-11-16 /pmc/articles/PMC9666520/ /pubmed/36379925 http://dx.doi.org/10.1038/s41439-022-00219-4 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Minatogawa, Mari
Tsuji, Taichi
Inaba, Mie
Kawakami, Noriaki
Mizuno, Seiji
Kosho, Tomoki
Atypical Sotos syndrome caused by a novel splice site variant
title Atypical Sotos syndrome caused by a novel splice site variant
title_full Atypical Sotos syndrome caused by a novel splice site variant
title_fullStr Atypical Sotos syndrome caused by a novel splice site variant
title_full_unstemmed Atypical Sotos syndrome caused by a novel splice site variant
title_short Atypical Sotos syndrome caused by a novel splice site variant
title_sort atypical sotos syndrome caused by a novel splice site variant
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9666520/
https://www.ncbi.nlm.nih.gov/pubmed/36379925
http://dx.doi.org/10.1038/s41439-022-00219-4
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