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A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation

Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with incomplete penetrance and variable clinical expr...

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Autores principales: Yang, Lipeng, Wu, Jian, Zhang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7020567/
https://www.ncbi.nlm.nih.gov/pubmed/32117029
http://dx.doi.org/10.3389/fneur.2020.00070
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author Yang, Lipeng
Wu, Jian
Zhang, Jing
author_facet Yang, Lipeng
Wu, Jian
Zhang, Jing
author_sort Yang, Lipeng
collection PubMed
description Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with incomplete penetrance and variable clinical expressivity. There are three genes considered to be associated with CCMs,—CCM1, which codes for KRIT1 protein; CCM2, which codes for MGC4607 protein; and CCM3, which codes for PDCD10 protein. To date, more than 74 gene mutations of CCM2 have been reported, and ~45% are deletion mutations. In this article, we disclose a novel CCM2 genetic variant (c.755delC, p.S252fs(*)40X) identified in a Chinese family to enrich the database of CCM2 genotypes.
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spelling pubmed-70205672020-02-28 A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation Yang, Lipeng Wu, Jian Zhang, Jing Front Neurol Neurology Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with incomplete penetrance and variable clinical expressivity. There are three genes considered to be associated with CCMs,—CCM1, which codes for KRIT1 protein; CCM2, which codes for MGC4607 protein; and CCM3, which codes for PDCD10 protein. To date, more than 74 gene mutations of CCM2 have been reported, and ~45% are deletion mutations. In this article, we disclose a novel CCM2 genetic variant (c.755delC, p.S252fs(*)40X) identified in a Chinese family to enrich the database of CCM2 genotypes. Frontiers Media S.A. 2020-02-07 /pmc/articles/PMC7020567/ /pubmed/32117029 http://dx.doi.org/10.3389/fneur.2020.00070 Text en Copyright © 2020 Yang, Wu and Zhang. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Yang, Lipeng
Wu, Jian
Zhang, Jing
A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
title A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
title_full A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
title_fullStr A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
title_full_unstemmed A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
title_short A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
title_sort novel ccm2 gene mutation associated with cerebral cavernous malformation
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7020567/
https://www.ncbi.nlm.nih.gov/pubmed/32117029
http://dx.doi.org/10.3389/fneur.2020.00070
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