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Article

Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome.

International journal of molecular medicine - 1 Jul 2011

Wang Rong-Rong, Li Ning, Zhang Yin-Hui, Wang Lin-Lin, Teng Si-Yong, Pu Jie-Lin

Abstract excerpt

Mutations in the KCNQ1 gene account for more than 90% of the individuals with Jervell and Lange-Nielsen syndrome (JLNS). In this study, we identified and characterized two novel KCNQ1 mutations that caused JLNS. A 6-year-old deaf girl suffering from recurrent syncope had a documented electrocardiogram with polymorphic ventricular fibrillation since the age of 4 years. The baseline electrocardiogram showed a...

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Source

Identifiers

PMID: 21380488
DOI: 10.3892/ijmm.2011.642

Genes

KCNQ1

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Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome.PMID 21380488Read ↗

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