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Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report
Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features. Pathogenic variants of the inwardly rectifying potassium chann...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842678/ https://www.ncbi.nlm.nih.gov/pubmed/35174115 http://dx.doi.org/10.3389/fped.2021.790075 |
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author | Yim, Jisook Kim, Kyoung Bo Kim, Minsun Lee, Gun Dong Kim, Myungshin |
author_facet | Yim, Jisook Kim, Kyoung Bo Kim, Minsun Lee, Gun Dong Kim, Myungshin |
author_sort | Yim, Jisook |
collection | PubMed |
description | Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features. Pathogenic variants of the inwardly rectifying potassium channel subfamily J member 2 (KCNJ2) gene have been linked to the ATS. Herein, we report a novel KCNJ2 causative variant in a proband and her father showing different ATS-associated symptoms. A 15-year-old girl was referred because of episodic weakness and periodic paralysis in both legs for 2–3 months. The symptoms occurred either when she was tired or after strenuous exercise. These attacks made walking or climbing stairs difficult and lasted from one to several days. She had a short stature (142 cm, <3rd percentile) and weighed 40 kg. The proband also showed orbital hypertelorism, dental crowding, mandibular hypoplasia, fifth-digit clinodactyly, and small hands. Scoliosis in the thoracolumbar region was detected by chest X-ray. Since she was 7 years old, she had been treated for arrhythmia-associated long QT interval and underwent periodic echocardiography. Brain MRI revealed cerebrovascular abnormalities indicating absence or hypoplasia of bilateral internal carotid arteries, and compensation of other collateral vessels was observed. There were no specific findings related to intellectual development. The proband's father also had a history of periodic paralysis similar to the proband. He did not show any cardiac symptoms. Interestingly, he was diagnosed with hyperthyroidism during an evaluation for paralytic symptoms. Clinical exome sequencing revealed a novel heterozygous missense variant: Chr17(GRCh37):g.68171593A>T, NM_000891.2:c.413A>T, p.(Glu138Val) in KCNJ2 in the proband and the proband's father. |
format | Online Article Text |
id | pubmed-8842678 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-88426782022-02-15 Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report Yim, Jisook Kim, Kyoung Bo Kim, Minsun Lee, Gun Dong Kim, Myungshin Front Pediatr Pediatrics Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features. Pathogenic variants of the inwardly rectifying potassium channel subfamily J member 2 (KCNJ2) gene have been linked to the ATS. Herein, we report a novel KCNJ2 causative variant in a proband and her father showing different ATS-associated symptoms. A 15-year-old girl was referred because of episodic weakness and periodic paralysis in both legs for 2–3 months. The symptoms occurred either when she was tired or after strenuous exercise. These attacks made walking or climbing stairs difficult and lasted from one to several days. She had a short stature (142 cm, <3rd percentile) and weighed 40 kg. The proband also showed orbital hypertelorism, dental crowding, mandibular hypoplasia, fifth-digit clinodactyly, and small hands. Scoliosis in the thoracolumbar region was detected by chest X-ray. Since she was 7 years old, she had been treated for arrhythmia-associated long QT interval and underwent periodic echocardiography. Brain MRI revealed cerebrovascular abnormalities indicating absence or hypoplasia of bilateral internal carotid arteries, and compensation of other collateral vessels was observed. There were no specific findings related to intellectual development. The proband's father also had a history of periodic paralysis similar to the proband. He did not show any cardiac symptoms. Interestingly, he was diagnosed with hyperthyroidism during an evaluation for paralytic symptoms. Clinical exome sequencing revealed a novel heterozygous missense variant: Chr17(GRCh37):g.68171593A>T, NM_000891.2:c.413A>T, p.(Glu138Val) in KCNJ2 in the proband and the proband's father. Frontiers Media S.A. 2022-01-31 /pmc/articles/PMC8842678/ /pubmed/35174115 http://dx.doi.org/10.3389/fped.2021.790075 Text en Copyright © 2022 Yim, Kim, Kim, Lee and Kim. 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 Yim, Jisook Kim, Kyoung Bo Kim, Minsun Lee, Gun Dong Kim, Myungshin Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report |
title | Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report |
title_full | Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report |
title_fullStr | Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report |
title_full_unstemmed | Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report |
title_short | Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report |
title_sort | andersen–tawil syndrome with novel mutation in kcnj2: case report |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842678/ https://www.ncbi.nlm.nih.gov/pubmed/35174115 http://dx.doi.org/10.3389/fped.2021.790075 |
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