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Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review

Mutations in the disheveled, Egl-10 and domain-containing protein 5 (DEPDC5) recently have been identified as a common cause of focal epilepsy syndromes. The association between phenotype and genotype of DEPDC5 mutation has not been adequately characterized. We studied four families with familial fo...

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Autores principales: Zhang, Xuan, Huang, Zhaoyang, Liu, Jianghong, Li, Mingyu, Zhao, Xiaoling, Ye, Jing, Wang, Yuping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8258162/
https://www.ncbi.nlm.nih.gov/pubmed/34239491
http://dx.doi.org/10.3389/fneur.2021.641019
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author Zhang, Xuan
Huang, Zhaoyang
Liu, Jianghong
Li, Mingyu
Zhao, Xiaoling
Ye, Jing
Wang, Yuping
author_facet Zhang, Xuan
Huang, Zhaoyang
Liu, Jianghong
Li, Mingyu
Zhao, Xiaoling
Ye, Jing
Wang, Yuping
author_sort Zhang, Xuan
collection PubMed
description Mutations in the disheveled, Egl-10 and domain-containing protein 5 (DEPDC5) recently have been identified as a common cause of focal epilepsy syndromes. The association between phenotype and genotype of DEPDC5 mutation has not been adequately characterized. We studied four families with familial focal epilepsy carrying DEPDC5 mutations. Four novel DEPDC5 mutations were identified by next-generation sequencing, including two missense mutations (c.1729 >A and c.3260G>A), one splicing mutation (c.280-1G>A), and one frameshift mutation (c.515_516delinsT). We found that patients carrying different DEPDC5 mutation have different clinical manifestations. Incomplete penetrance is a prominent feature of DEPDC5-related epilepsy, with the rate of penetrance ranging from 25 to 100%. About 21.4% of patients with DEPDC5-related familial focal epilepsy are refractory to treatments. We further reviewed the correlation of genotype and phenotype in all previous literature regarding DEPDC5-related epilepsy. Our study suggested that the type of DEPDC5 mutation might provide important information for the prognosis evaluation.
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spelling pubmed-82581622021-07-07 Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review Zhang, Xuan Huang, Zhaoyang Liu, Jianghong Li, Mingyu Zhao, Xiaoling Ye, Jing Wang, Yuping Front Neurol Neurology Mutations in the disheveled, Egl-10 and domain-containing protein 5 (DEPDC5) recently have been identified as a common cause of focal epilepsy syndromes. The association between phenotype and genotype of DEPDC5 mutation has not been adequately characterized. We studied four families with familial focal epilepsy carrying DEPDC5 mutations. Four novel DEPDC5 mutations were identified by next-generation sequencing, including two missense mutations (c.1729 >A and c.3260G>A), one splicing mutation (c.280-1G>A), and one frameshift mutation (c.515_516delinsT). We found that patients carrying different DEPDC5 mutation have different clinical manifestations. Incomplete penetrance is a prominent feature of DEPDC5-related epilepsy, with the rate of penetrance ranging from 25 to 100%. About 21.4% of patients with DEPDC5-related familial focal epilepsy are refractory to treatments. We further reviewed the correlation of genotype and phenotype in all previous literature regarding DEPDC5-related epilepsy. Our study suggested that the type of DEPDC5 mutation might provide important information for the prognosis evaluation. Frontiers Media S.A. 2021-06-22 /pmc/articles/PMC8258162/ /pubmed/34239491 http://dx.doi.org/10.3389/fneur.2021.641019 Text en Copyright © 2021 Zhang, Huang, Liu, Li, Zhao, Ye and Wang. https://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
Zhang, Xuan
Huang, Zhaoyang
Liu, Jianghong
Li, Mingyu
Zhao, Xiaoling
Ye, Jing
Wang, Yuping
Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
title Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
title_full Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
title_fullStr Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
title_full_unstemmed Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
title_short Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
title_sort phenotypic and genotypic characterization of depdc5-related familial focal epilepsy: case series and literature review
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8258162/
https://www.ncbi.nlm.nih.gov/pubmed/34239491
http://dx.doi.org/10.3389/fneur.2021.641019
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