Bibliographic Details
| Title: |
When Bad Luck Strikes Twice: Beckwith Wiedemann Syndrome Associated with Familial Long QT Syndrome Type I. |
| Authors: |
Petchesi, Codruta Diana1,2, Kozma, Kinga1,3 kozmaki@gmail.com, Iuhas, Alin Remus3,4, Hodisan, Ramona1, Jurca, Alexandru Daniel1 |
| Source: |
Archives of Pharmacy Practice. Jul-Sep2024, Vol. 15 Issue 3, p49-53. 5p. |
| Subject Terms: |
*LONG QT syndrome, *GENOMIC imprinting, *GENETIC disorders, *GENETIC variation, *CHROMOSOMES |
| 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. [ABSTRACT FROM AUTHOR] |
|
Copyright of Archives of Pharmacy Practice is the property of Archives of Pharmacy Practice and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| Database: |
Academic Search Complete |
