An Elderly Jervell and Lange-Nielsen patient Heterozygous compound for Two New KCNQ1 Mutations

作者：Coto Eliecer^*; Garcia Fernandez Francisco J; Calvo David; Salgado Aranda Ricardo; Martin Gonzalez Javier; Alonso Belen; Iglesias Sara; Gomez Juan

来源：American Journal of Medical Genetics, Part A, 2017, 173(3): 749-752.

DOI：10.1002/ajmg.a.38062

• Jervell and Lange Nielsen
• long QT syndrome
• KCNQ1 mutation

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.

• 出版日期2017-3