Ontology highlight
ABSTRACT:
SUBMITTER: Matsuda S
PROVIDER: S-EPMC7562699 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Human genome variation 20201015
We encountered a boy with Jervell and Lange-Nielsen syndrome (JLNS) with compound heterozygous <i>KCNQ1</i> 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 (<i>SNTA1</i> Thr372Met), which is reportedly related to SIDS. These results suggest that multiple gene mutations influence the phenotype of <i>KCNQ1</i> mutation- ...[more]