An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.

Abstract

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. © 2016 Wiley Periodicals, Inc.

• Authors: Eliecer Coto, Francisco J García-Fernández, David Calvo, Ricardo Salgado-Aranda, Javier Martín-González, Belén Alonso, Sara Iglesias, Juan Gómez
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 173 Issue 3 Pg. 749-752 (Mar 2017) ISSN: 1552-4833 [Electronic] United States
• PMID: 27868350 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2016 Wiley Periodicals, Inc.

Chemical References

• KCNQ1 Potassium Channel

Topics

• Aged
• DNA Mutational Analysis
• Delayed Diagnosis
• Electrocardiography
• Exons
• Female
• Genetic Association Studies
• Heterozygote
• Humans
• Jervell-Lange Nielsen Syndrome (diagnosis, genetics)
• KCNQ1 Potassium Channel (genetics)
• Mutation
• Phenotype
• Sequence Analysis, DNA