Key result
KCNQ1 sequencing identifies 2 novel variants confirming Jervell and Lange-Nielsen syndrome.
Why the study?
Jervell and Lange-Nielsen syndrome diagnosis can be challenging in adults with early onset deafness and seizures, requiring genetic confirmation.
Case Report (n=1)
Novel KCNQ1 variants expand JLNS mutational spectrum; hypothesis-generating pending functional validation and larger cohorts.
We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome.
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Coto et al. (2016) conducted a case report in Jervell and Lange-Nielsen syndrome (n=1). KCNQ1 gene sequencing was evaluated on Identification of pathogenic KCNQ1 variants. Sequencing of the KCNQ1 gene in a 66-year-old female with early onset deafness and long-QT syndrome identified two novel pathogenic variants, confirming Jervell and Lange-Nielsen syndrome.
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