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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Veröffentlicht in:	Human genome variation 2020-10, Vol.7 (1), p.34-34, Article 34
Hauptverfasser:	Matsuda, Shinichi, Ohnuki, Yuko, Okami, Mayuri, Ochiai, Eriko, Yamada, Shiro, Takahashi, Kazumi, Osawa, Motoki, Okami, Kenji, Iida, Masahiro, Mochizuki, Hiroyuki
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/1516/1510 631/208/2489/144 Age Amino acids Arrhythmia Beta blockers Biomedical and Life Sciences Biomedicine Cardiac arrhythmia Congenital diseases Consciousness Data Report Deoxyribonucleic acid DNA EKG Electrocardiography Fainting Family medical history Gene Expression Gene Function Gene Therapy Genetic counseling Genomes Human Genetics Jervell and Lange-Nielsen syndrome KCNQ1 protein Medical screening Molecular Medicine Mutation Parents & parenting Patients Phenotypes Potassium channels (voltage-gated) SIDS Sudden infant death syndrome
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Zusammenfassung:	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.
ISSN:	2054-345X 2054-345X
DOI:	10.1038/s41439-020-00121-x