Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient

We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, incl...

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Autores principales: Fukuda, Yuya, Kudo, Yoshimasa, Saito, Makoto, Kaname, Tadashi, Oota, Tohru, Shoji, Reikichi
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/PMC9019084/
https://www.ncbi.nlm.nih.gov/pubmed/35440576
http://dx.doi.org/10.1038/s41439-022-00189-7
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author Fukuda, Yuya
Kudo, Yoshimasa
Saito, Makoto
Kaname, Tadashi
Oota, Tohru
Shoji, Reikichi
author_facet Fukuda, Yuya
Kudo, Yoshimasa
Saito, Makoto
Kaname, Tadashi
Oota, Tohru
Shoji, Reikichi
author_sort Fukuda, Yuya
collection PubMed
description We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, including a rectovestibular fistula, extremely short stature, and underweight, expanding the known phenotype of PURA syndrome.
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spelling pubmed-90190842022-04-28 Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient Fukuda, Yuya Kudo, Yoshimasa Saito, Makoto Kaname, Tadashi Oota, Tohru Shoji, Reikichi Hum Genome Var Data Report We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, including a rectovestibular fistula, extremely short stature, and underweight, expanding the known phenotype of PURA syndrome. Nature Publishing Group UK 2022-04-19 /pmc/articles/PMC9019084/ /pubmed/35440576 http://dx.doi.org/10.1038/s41439-022-00189-7 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
Fukuda, Yuya
Kudo, Yoshimasa
Saito, Makoto
Kaname, Tadashi
Oota, Tohru
Shoji, Reikichi
Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient
title Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient
title_full Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient
title_fullStr Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient
title_full_unstemmed Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient
title_short Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient
title_sort expanding the pura syndrome phenotype with manifestations in a japanese female patient
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019084/
https://www.ncbi.nlm.nih.gov/pubmed/35440576
http://dx.doi.org/10.1038/s41439-022-00189-7
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