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A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review

In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 (PUM1) mutations. However, the characteristics of the seizure phenotype remain to be elucidated. We herein described a 3-year-old female...

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Autores principales: Ye, Yuanzhen, Hu, Zhanqi, Mai, Jiahui, Chen, Li, Cao, Dezhi, Liao, Jianxiang, Duan, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8978559/
https://www.ncbi.nlm.nih.gov/pubmed/35386260
http://dx.doi.org/10.3389/fped.2022.759889
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author Ye, Yuanzhen
Hu, Zhanqi
Mai, Jiahui
Chen, Li
Cao, Dezhi
Liao, Jianxiang
Duan, Jing
author_facet Ye, Yuanzhen
Hu, Zhanqi
Mai, Jiahui
Chen, Li
Cao, Dezhi
Liao, Jianxiang
Duan, Jing
author_sort Ye, Yuanzhen
collection PubMed
description In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 (PUM1) mutations. However, the characteristics of the seizure phenotype remain to be elucidated. We herein described a 3-year-old female proband who was diagnosed with developmental and epileptic encephalopathy presenting with some features suggestive of a Dravet-like syndrome. For genetic analyses, trio-based whole-exome sequencing and array comparative genomic hybridization were performed. Consequently, a de novo heterozygous missense variant was identified in exon 22 of the PUM1 gene: NM_001020658: c.3439C > T (p.Arg1147Trp). Upon thoroughly reviewing the existing literature, nine cases of PUM1 mutation-related epilepsy were identified, and their clinical features were summarized. A relationship between PUM1 mutation and clinical manifestations characteristic of a Dravet-like syndrome was proposed. To our knowledge, this is the first report of a patient with PUM1 mutation presenting with a Dravet-like syndrome.
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spelling pubmed-89785592022-04-05 A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review Ye, Yuanzhen Hu, Zhanqi Mai, Jiahui Chen, Li Cao, Dezhi Liao, Jianxiang Duan, Jing Front Pediatr Pediatrics In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 (PUM1) mutations. However, the characteristics of the seizure phenotype remain to be elucidated. We herein described a 3-year-old female proband who was diagnosed with developmental and epileptic encephalopathy presenting with some features suggestive of a Dravet-like syndrome. For genetic analyses, trio-based whole-exome sequencing and array comparative genomic hybridization were performed. Consequently, a de novo heterozygous missense variant was identified in exon 22 of the PUM1 gene: NM_001020658: c.3439C > T (p.Arg1147Trp). Upon thoroughly reviewing the existing literature, nine cases of PUM1 mutation-related epilepsy were identified, and their clinical features were summarized. A relationship between PUM1 mutation and clinical manifestations characteristic of a Dravet-like syndrome was proposed. To our knowledge, this is the first report of a patient with PUM1 mutation presenting with a Dravet-like syndrome. Frontiers Media S.A. 2022-03-21 /pmc/articles/PMC8978559/ /pubmed/35386260 http://dx.doi.org/10.3389/fped.2022.759889 Text en Copyright © 2022 Ye, Hu, Mai, Chen, Cao, Liao and Duan. 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 Pediatrics
Ye, Yuanzhen
Hu, Zhanqi
Mai, Jiahui
Chen, Li
Cao, Dezhi
Liao, Jianxiang
Duan, Jing
A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review
title A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review
title_full A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review
title_fullStr A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review
title_full_unstemmed A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review
title_short A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review
title_sort de novo pum1 variant in a girl with a dravet-like syndrome: case report and literature review
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8978559/
https://www.ncbi.nlm.nih.gov/pubmed/35386260
http://dx.doi.org/10.3389/fped.2022.759889
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