A novel PTRH2 missense mutation causing IMNEPD: a case report

PTRH2 deficiency is associated with an extremely rare disease, infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We report the first Iranian patient with IMNEPD. We detected a pathogenic variant in the PTRH2 gene (NM_016077.5: c.68T > C, p.V23A). The proband has...

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Autores principales: Khamirani, Hossein Jafari, Zoghi, Sina, Dianatpour, Mehdi, Jankhah, Aria, Tabei, Seyed Sajjad, Mohammadi, Sanaz, Dastgheib, Seyed Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8192544/
https://www.ncbi.nlm.nih.gov/pubmed/34112751
http://dx.doi.org/10.1038/s41439-021-00147-9
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author Khamirani, Hossein Jafari
Zoghi, Sina
Dianatpour, Mehdi
Jankhah, Aria
Tabei, Seyed Sajjad
Mohammadi, Sanaz
Dastgheib, Seyed Alireza
author_facet Khamirani, Hossein Jafari
Zoghi, Sina
Dianatpour, Mehdi
Jankhah, Aria
Tabei, Seyed Sajjad
Mohammadi, Sanaz
Dastgheib, Seyed Alireza
author_sort Khamirani, Hossein Jafari
collection PubMed
description PTRH2 deficiency is associated with an extremely rare disease, infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We report the first Iranian patient with IMNEPD. We detected a pathogenic variant in the PTRH2 gene (NM_016077.5: c.68T > C, p.V23A). The proband has myopia, spastic diplegic cerebral palsy, urolithiasis, and a history of seizures.
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spelling pubmed-81925442021-06-17 A novel PTRH2 missense mutation causing IMNEPD: a case report Khamirani, Hossein Jafari Zoghi, Sina Dianatpour, Mehdi Jankhah, Aria Tabei, Seyed Sajjad Mohammadi, Sanaz Dastgheib, Seyed Alireza Hum Genome Var Data Report PTRH2 deficiency is associated with an extremely rare disease, infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We report the first Iranian patient with IMNEPD. We detected a pathogenic variant in the PTRH2 gene (NM_016077.5: c.68T > C, p.V23A). The proband has myopia, spastic diplegic cerebral palsy, urolithiasis, and a history of seizures. Nature Publishing Group UK 2021-06-10 /pmc/articles/PMC8192544/ /pubmed/34112751 http://dx.doi.org/10.1038/s41439-021-00147-9 Text en © The Author(s) 2021 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
Khamirani, Hossein Jafari
Zoghi, Sina
Dianatpour, Mehdi
Jankhah, Aria
Tabei, Seyed Sajjad
Mohammadi, Sanaz
Dastgheib, Seyed Alireza
A novel PTRH2 missense mutation causing IMNEPD: a case report
title A novel PTRH2 missense mutation causing IMNEPD: a case report
title_full A novel PTRH2 missense mutation causing IMNEPD: a case report
title_fullStr A novel PTRH2 missense mutation causing IMNEPD: a case report
title_full_unstemmed A novel PTRH2 missense mutation causing IMNEPD: a case report
title_short A novel PTRH2 missense mutation causing IMNEPD: a case report
title_sort novel ptrh2 missense mutation causing imnepd: a case report
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8192544/
https://www.ncbi.nlm.nih.gov/pubmed/34112751
http://dx.doi.org/10.1038/s41439-021-00147-9
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