Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome

We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in ASL on chromosome 7, leading to the onset of argininosuccin...

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Autores principales: Hattori, Atsushi, Okuyama, Torayuki, So, Tetsumin, Kosuga, Motomichi, Ichimoto, Keiko, Murayama, Kei, Kagami, Masayo, Fukami, Maki, Fukuhara, Yasuyuki
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/PMC9468177/
https://www.ncbi.nlm.nih.gov/pubmed/36097158
http://dx.doi.org/10.1038/s41439-022-00211-y
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author Hattori, Atsushi
Okuyama, Torayuki
So, Tetsumin
Kosuga, Motomichi
Ichimoto, Keiko
Murayama, Kei
Kagami, Masayo
Fukami, Maki
Fukuhara, Yasuyuki
author_facet Hattori, Atsushi
Okuyama, Torayuki
So, Tetsumin
Kosuga, Motomichi
Ichimoto, Keiko
Murayama, Kei
Kagami, Masayo
Fukami, Maki
Fukuhara, Yasuyuki
author_sort Hattori, Atsushi
collection PubMed
description We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in ASL on chromosome 7, leading to the onset of argininosuccinic aciduria. The phenotype of the present case was more severe than that of a previous case, demonstrating a phenotypic variation in the combination of argininosuccinic aciduria and SRS.
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spelling pubmed-94681772022-09-14 Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome Hattori, Atsushi Okuyama, Torayuki So, Tetsumin Kosuga, Motomichi Ichimoto, Keiko Murayama, Kei Kagami, Masayo Fukami, Maki Fukuhara, Yasuyuki Hum Genome Var Data Report We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in ASL on chromosome 7, leading to the onset of argininosuccinic aciduria. The phenotype of the present case was more severe than that of a previous case, demonstrating a phenotypic variation in the combination of argininosuccinic aciduria and SRS. Nature Publishing Group UK 2022-09-12 /pmc/articles/PMC9468177/ /pubmed/36097158 http://dx.doi.org/10.1038/s41439-022-00211-y 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
Hattori, Atsushi
Okuyama, Torayuki
So, Tetsumin
Kosuga, Motomichi
Ichimoto, Keiko
Murayama, Kei
Kagami, Masayo
Fukami, Maki
Fukuhara, Yasuyuki
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
title Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
title_full Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
title_fullStr Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
title_full_unstemmed Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
title_short Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
title_sort maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and silver-russell syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468177/
https://www.ncbi.nlm.nih.gov/pubmed/36097158
http://dx.doi.org/10.1038/s41439-022-00211-y
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