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

被引：0
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作者：
Shinichi Matsuda
Yuko Ohnuki
Mayuri Okami
Eriko Ochiai
Shiro Yamada
Kazumi Takahashi
Motoki Osawa
Kenji Okami
Masahiro Iida
Hiroyuki Mochizuki
机构：
[1] Tokai University School of Medicine,Department of Pediatrics
[2] Tokai University School of Medicine,Department of Medical Ethics
[3] Tokai University Hospital,Department of Clinical Genetics
[4] Tokai University School of Medicine,Department of Otolaryngology
[5] Samukawa Hospital,Department of Otolaryngology
[6] Tokai University School of Medicine,Department of Forensic Medicine
[7] Tokai University Oiso Hospital,Department of Pediatrics
来源：
Human Genome Variation | / 7卷
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摘要：
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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