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

Shinichi Matsuda; Yuko Ohnuki; Mayuri Okami; Eriko Ochiai; Shiro Yamada; Kazumi Takahashi; Motoki Osawa; Kenji Okami; Masahiro Iida; Hiroyuki Mochizuki

doi:10.1038/s41439-020-00121-x

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

Hum Genome Var. 2020 Oct 15:7:34. doi: 10.1038/s41439-020-00121-x. eCollection 2020.

Authors

Shinichi Matsuda¹, Yuko Ohnuki^{2

3}, Mayuri Okami^{3

4

5}, Eriko Ochiai⁶, Shiro Yamada⁷, Kazumi Takahashi^{2

3}, Motoki Osawa⁶, Kenji Okami⁴, Masahiro Iida⁴, Hiroyuki Mochizuki¹

Affiliations

¹ Department of Pediatrics, Tokai University School of Medicine, Isehara, Japan.
² Department of Medical Ethics, Tokai University School of Medicine, Isehara, Japan.
³ Department of Clinical Genetics, Tokai University Hospital, Isehara, Japan.
⁴ Department of Otolaryngology, Tokai University School of Medicine, Isehara, Japan.
⁵ Department of Otolaryngology, Samukawa Hospital, Samukawa, Japan.
⁶ Department of Forensic Medicine, Tokai University School of Medicine, Isehara, Japan.
⁷ Department of Pediatrics, Tokai University Oiso Hospital, Oiso, Japan.

Abstract

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.

Keywords: Disease genetics; Genetic counselling.