Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1

In this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral congenital cataracts, developmental de...

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Autores principales: Alavi, Omid, Khamirani, Hossein Jafari, Zoghi, Sina, Feili, Afrooz, Dastgheib, Seyed Alireza, Tabei, Seyed Mohammad Bagher, Manoochehri, Jamal, Panahandeh, Seyed Mehdi, Kamali, Majid, Dianatpour, Mehdi
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/PMC8548584/
https://www.ncbi.nlm.nih.gov/pubmed/34702808
http://dx.doi.org/10.1038/s41439-021-00171-9
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author Alavi, Omid
Khamirani, Hossein Jafari
Zoghi, Sina
Feili, Afrooz
Dastgheib, Seyed Alireza
Tabei, Seyed Mohammad Bagher
Manoochehri, Jamal
Panahandeh, Seyed Mehdi
Kamali, Majid
Dianatpour, Mehdi
author_facet Alavi, Omid
Khamirani, Hossein Jafari
Zoghi, Sina
Feili, Afrooz
Dastgheib, Seyed Alireza
Tabei, Seyed Mohammad Bagher
Manoochehri, Jamal
Panahandeh, Seyed Mehdi
Kamali, Majid
Dianatpour, Mehdi
author_sort Alavi, Omid
collection PubMed
description In this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral congenital cataracts, developmental delay, abnormal craniofacial features, drug-resistant constipation, and corpus callosum hypoplasia. The proband of the second family is a 13-year-old boy who suffers from developmental delay, quadriplegia, intellectual disability, abnormal craniofacial features, and corpus callosum hypoplasia.
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spelling pubmed-85485842021-10-29 Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1 Alavi, Omid Khamirani, Hossein Jafari Zoghi, Sina Feili, Afrooz Dastgheib, Seyed Alireza Tabei, Seyed Mohammad Bagher Manoochehri, Jamal Panahandeh, Seyed Mehdi Kamali, Majid Dianatpour, Mehdi Hum Genome Var Data Report In this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral congenital cataracts, developmental delay, abnormal craniofacial features, drug-resistant constipation, and corpus callosum hypoplasia. The proband of the second family is a 13-year-old boy who suffers from developmental delay, quadriplegia, intellectual disability, abnormal craniofacial features, and corpus callosum hypoplasia. Nature Publishing Group UK 2021-10-26 /pmc/articles/PMC8548584/ /pubmed/34702808 http://dx.doi.org/10.1038/s41439-021-00171-9 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
Alavi, Omid
Khamirani, Hossein Jafari
Zoghi, Sina
Feili, Afrooz
Dastgheib, Seyed Alireza
Tabei, Seyed Mohammad Bagher
Manoochehri, Jamal
Panahandeh, Seyed Mehdi
Kamali, Majid
Dianatpour, Mehdi
Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1
title Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1
title_full Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1
title_fullStr Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1
title_full_unstemmed Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1
title_short Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1
title_sort two novel warburg micro syndrome 1 cases caused by pathogenic variants in rab3gap1
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8548584/
https://www.ncbi.nlm.nih.gov/pubmed/34702808
http://dx.doi.org/10.1038/s41439-021-00171-9
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