Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

In this report, we present a European family with six individuals affected with Moyamoya disease (MMD). We detected two novel missense variants in the Moyamoya susceptibility gene RNF213, c.12553A>G (p.(Lys4185Glu)) and c.12562G>A (p.(Ala4188Thr)). Cosegregation of the variants with MMD, as we...

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Autores principales: Gagunashvili, Andrey N., Ocaka, Louise, Kelberman, Daniel, Munot, Pinki, Bacchelli, Chiara, Beales, Philip L., Ganesan, Vijeya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804521/
https://www.ncbi.nlm.nih.gov/pubmed/31645973
http://dx.doi.org/10.1038/s41439-019-0066-6
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author Gagunashvili, Andrey N.
Ocaka, Louise
Kelberman, Daniel
Munot, Pinki
Bacchelli, Chiara
Beales, Philip L.
Ganesan, Vijeya
author_facet Gagunashvili, Andrey N.
Ocaka, Louise
Kelberman, Daniel
Munot, Pinki
Bacchelli, Chiara
Beales, Philip L.
Ganesan, Vijeya
author_sort Gagunashvili, Andrey N.
collection PubMed
description In this report, we present a European family with six individuals affected with Moyamoya disease (MMD). We detected two novel missense variants in the Moyamoya susceptibility gene RNF213, c.12553A>G (p.(Lys4185Glu)) and c.12562G>A (p.(Ala4188Thr)). Cosegregation of the variants with MMD, as well as a previous report of a variant affecting the same amino acid residue in unrelated MMD patients, supports the role of RNF213 in the pathogenesis of MMD.
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spelling pubmed-68045212019-10-23 Novel missense variants in the RNF213 gene from a European family with Moyamoya disease Gagunashvili, Andrey N. Ocaka, Louise Kelberman, Daniel Munot, Pinki Bacchelli, Chiara Beales, Philip L. Ganesan, Vijeya Hum Genome Var Data Report In this report, we present a European family with six individuals affected with Moyamoya disease (MMD). We detected two novel missense variants in the Moyamoya susceptibility gene RNF213, c.12553A>G (p.(Lys4185Glu)) and c.12562G>A (p.(Ala4188Thr)). Cosegregation of the variants with MMD, as well as a previous report of a variant affecting the same amino acid residue in unrelated MMD patients, supports the role of RNF213 in the pathogenesis of MMD. Nature Publishing Group UK 2019-08-08 /pmc/articles/PMC6804521/ /pubmed/31645973 http://dx.doi.org/10.1038/s41439-019-0066-6 Text en © The Author(s) 2019 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/.
spellingShingle Data Report
Gagunashvili, Andrey N.
Ocaka, Louise
Kelberman, Daniel
Munot, Pinki
Bacchelli, Chiara
Beales, Philip L.
Ganesan, Vijeya
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease
title Novel missense variants in the RNF213 gene from a European family with Moyamoya disease
title_full Novel missense variants in the RNF213 gene from a European family with Moyamoya disease
title_fullStr Novel missense variants in the RNF213 gene from a European family with Moyamoya disease
title_full_unstemmed Novel missense variants in the RNF213 gene from a European family with Moyamoya disease
title_short Novel missense variants in the RNF213 gene from a European family with Moyamoya disease
title_sort novel missense variants in the rnf213 gene from a european family with moyamoya disease
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804521/
https://www.ncbi.nlm.nih.gov/pubmed/31645973
http://dx.doi.org/10.1038/s41439-019-0066-6
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