Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

Marcella Zollino, Antonio Oliva, Vincenzo Lorenzo Pascali, Fiorella Gurrieri, Daniela Orteschi, Roberta Pietrobono, Antonia Camporeale, Fulvio Bellocci, Giovanni Neri, Monica Coll Vidal, Sara Partemi, Ramon Brugada

Risultato della ricerca: Contributo in rivistaArticolo in rivista

26 Citazioni (Scopus)

Abstract

We report on a young woman admitted to our Cardiology Unit because of an episode of cardiac arrest related to a long-QT syndrome (LQTS). This manifestation was part of a broader phenotype, which was recognized as a mild form of Beckwith-Wiedemann syndrome (BWS). Molecular analysis confirmed the diagnosis of BWS owing to a maternally inherited deletion of the centromeric imprinting center, or ICR2, an extremely rare genetic mechanism in BWS. The deletion interval (198 kb) also included exons 11-16 of the KCNQ1 gene, known to be responsible for LQTS at locus LQT1. No concomitant mutations were found in any other of the known LQT genes. The proposita's mother carries the same deletion in her paternal chromosome and shows manifestations of the Silver-Russell syndrome (SRS). This report describes the smallest BWS-causing ICR2 deletion and provides the first evidence that a paternal deletion of ICR2 leads to a SRS-like phenotype. In addition, our observation strongly suggests that in cases of LQTS due to mutation of the KCNQ1 gene (LQT1), an accurate clinical genetic evaluation should be done in order to program the most appropriate genetic tests.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaEuropean Journal of Human Genetics
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • Imprinting Centre 2, Beckwith Wiedemann syndrome

Fingerprint

Entra nei temi di ricerca di 'Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.'. Insieme formano una fingerprint unica.

Cita questo