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

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

Shinichi Matsuda  1 , Yuko Ohnuki  2   3 , Mayuri Okami  3   4   5 , Eriko Ochiai  6 , Shiro Yamada  7 , Kazumi Takahashi  2   3 , Motoki Osawa  6 , Kenji Okami  4 , Masahiro Iida  4 , Hiroyuki Mochizuki  1
Affiliations

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

Shinichi Matsuda et al. Hum Genome Var. .

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.

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Conflict of interest statement

Conflict of interestThe authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Roman numerals refer to the different generations, and numbers 1–8 identify individuals within each generation. The proband is indicated by the arrow (IV-1). The phenotypes are indicated by half-filled circles or squares; long QT is shown on the left, and deafness is shown on the right. QTc time, electrocardiograms, and the genotypes of the proband and his parents (III-2, III-6) are indicated.
See this image and copyright information in PMC

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