Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations

We encountered a boy with Jervell and Lange-Nielsen syndrome (JLNS) with compound heterozygous KCNQ1 mutations, maternal Trp248Phe and a novel paternal mutation, Leu347Arg. His father showed long QT (LQT) and arrhythmia. His mother was asymptomatic with no ECG abnormalities. The proband and his fath...

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Autores principales: Matsuda, Shinichi, Ohnuki, Yuko, Okami, Mayuri, Ochiai, Eriko, Yamada, Shiro, Takahashi, Kazumi, Osawa, Motoki, Okami, Kenji, Iida, Masahiro, Mochizuki, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562699/
https://www.ncbi.nlm.nih.gov/pubmed/33082985
http://dx.doi.org/10.1038/s41439-020-00121-x
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author Matsuda, Shinichi
Ohnuki, Yuko
Okami, Mayuri
Ochiai, Eriko
Yamada, Shiro
Takahashi, Kazumi
Osawa, Motoki
Okami, Kenji
Iida, Masahiro
Mochizuki, Hiroyuki
author_facet Matsuda, Shinichi
Ohnuki, Yuko
Okami, Mayuri
Ochiai, Eriko
Yamada, Shiro
Takahashi, Kazumi
Osawa, Motoki
Okami, Kenji
Iida, Masahiro
Mochizuki, Hiroyuki
author_sort Matsuda, Shinichi
collection PubMed
description We encountered a boy with Jervell and Lange-Nielsen syndrome (JLNS) with compound heterozygous KCNQ1 mutations, maternal Trp248Phe and a novel paternal mutation, Leu347Arg. His father showed long QT (LQT) and arrhythmia. His mother was asymptomatic with no ECG abnormalities. The proband and his father had an additional mutation (SNTA1 Thr372Met), which is reportedly related to SIDS. These results suggest that multiple gene mutations influence the phenotype of KCNQ1 mutation-related arrhythmia.
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spelling pubmed-75626992020-10-19 Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations Matsuda, Shinichi Ohnuki, Yuko Okami, Mayuri Ochiai, Eriko Yamada, Shiro Takahashi, Kazumi Osawa, Motoki Okami, Kenji Iida, Masahiro Mochizuki, Hiroyuki Hum Genome Var Data Report We encountered a boy with Jervell and Lange-Nielsen syndrome (JLNS) with compound heterozygous KCNQ1 mutations, maternal Trp248Phe and a novel paternal mutation, Leu347Arg. His father showed long QT (LQT) and arrhythmia. His mother was asymptomatic with no ECG abnormalities. The proband and his father had an additional mutation (SNTA1 Thr372Met), which is reportedly related to SIDS. These results suggest that multiple gene mutations influence the phenotype of KCNQ1 mutation-related arrhythmia. Nature Publishing Group UK 2020-10-15 /pmc/articles/PMC7562699/ /pubmed/33082985 http://dx.doi.org/10.1038/s41439-020-00121-x Text en © The Author(s) 2020 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
Matsuda, Shinichi
Ohnuki, Yuko
Okami, Mayuri
Ochiai, Eriko
Yamada, Shiro
Takahashi, Kazumi
Osawa, Motoki
Okami, Kenji
Iida, Masahiro
Mochizuki, Hiroyuki
Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations
title Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations
title_full Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations
title_fullStr Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations
title_full_unstemmed Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations
title_short Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations
title_sort jervell and lange-nielsen syndrome with novel kcnq1 and additional gene mutations
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562699/
https://www.ncbi.nlm.nih.gov/pubmed/33082985
http://dx.doi.org/10.1038/s41439-020-00121-x
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