Key result
A boy with Jervell and Lange-Nielsen syndrome harbored compound heterozygous KCNQ1 mutations (maternal Trp248Phe and novel paternal Leu347Arg) and an additional SNTA1 Thr372Met mutation, suggesting multiple mutations influence the phenotype.
Case Report (n=3)
A novel combination of KCNQ1 and SNTA1 mutations was identified in a boy with Jervell and Lange-Nielsen syndrome, highlighting that multiple genetic factors may contribute to the severity of long QT syndrome phenotypes.
Multiple mutations may worsen JLNS severity in this case; leaves open whether SNTA1 modifies KCNQ1-related phenotypes.
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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Matsuda et al. (2020) conducted a case report in Jervell and Lange-Nielsen syndrome (JLNS) (n=3). KCNQ1 and SNTA1 gene mutations was evaluated on Identification of genetic mutations causing JLNS. A boy with Jervell and Lange-Nielsen syndrome harbored compound heterozygous KCNQ1 mutations (maternal Trp248Phe and novel paternal Leu347Arg) and an additional SNTA1 Thr372Met mutation, suggesting multiple mutations influence the phenotype.
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