When Bad Luck Strikes Twice: Beckwith Wiedemann Syndrome Associated with Familial Long QT Syndrome Type I | [Archives of Pharmacy Practice • 2024]

Author(s):

1. Codruta Diana Petchesi: Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania. Regional Center for Medical Genetics Bihor (part of ERN THACA), Bihor County Emergency Clinical Hospital, Oradea, Romania.

2. Kinga Kozma: Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania; Regional Center for Medical Genetics Bihor (part of ERN THACA), Bihor County Emergency Clinical Hospital, Oradea, Romania.

3. Alin Remus Iuhas: Bihor County Emergency Clinical Hospital, Oradea, Romania. Department of Medical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania

4. Ramona Hodisan: Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania

5. Alexandru Daniel Jurca: Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania

Abstract:

Long QT syndrome type I is an autosomal dominant condition caused by the heterozygotic loss of the KCNQ1 gene function on the 11p15 chromosome. The KCNQ1 gene is located on chromosome 11 in an area that has been the subject of genetic imprinting and is involved in another genetic condition, Beckwith-Wiedemann syndrome. The authors present the case of a girl with inherited type I long QT syndrome (the patient's mother and sister are affected) associated with Beckwith-Wiedemann syndrome by hypomethylation of the IC2 imprinting center. MS-MLPA showed hypomethylation of the KvDMR locus (IC2), and Sanger sequencing performed revealed a pathogenic mutational variant in the KCNQ1 gene. Not every carrier of the pathogenic mutational variant in the KCNQ1 gene and IC2 hypomethylation exhibits both genetic disorders, for reasons that are not fully explained. Early diagnosis, close multidisciplinary monitoring, and adequate treatment are critical to the patient's optimal development and good prognosis.

Page(s): 49-53

DOI: 10.51847/Co1unfeMPY

Published: Journal: Archives of Pharmacy Practice, Volume: 15, Issue: 3, Year: 2024

Keywords:

KCNQ1 , Long QT type I , Beckwithwiedemann , IC2 hypomethylation

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