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- Title
Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.
- Authors
Kaltenbach, S; Capri, Y; Rossignol, S; Denjoy, I; Soudée, S; Aboura, A; Baumann, C; Verloes, A
- Abstract
We report a child with Beckwith-Wiedemann syndrome ( BWS) as the consequence of an apparently balanced, maternally inherited reciprocal translocation t(11;17)(p15.5;q21.3). His mother and aunt, who inherited the translocation from their father, did not have BWS. At birth, long QT syndrome ( LQTS) was diagnosed in this child and, secondarily, among apparently healthy family members carrying the translocation. By FISH analysis, the breakpoint in 11p15.5 interrupts the KCNQ1 gene between exons 2 and 10 and causes a loss of methylation of the IC2 (and thus BWS) on the maternally inherited der(11) chromosome. To explain the presence of LQTS segregating with the t(11;17) translocation in this family, we hypothesize that the translocation that interrupts KCNQ1 allow translation of an abnormal short allele that interferes in a dominant negative way with the normal isoform 1 of KCNQ1 in the heart (where this allele is not subject to parental imprint). This appears to be the first report of BWS with congenital LQTS, which should be considered as a rare but serious complication to be searched systematically in patients with BWS due to 11p15 rearrangements.
- Subjects
BECKWITH-Wiedemann syndrome; LONG QT syndrome; CHROMOSOMAL translocation; EXONS (Genetics); METHYLATION; HUMAN chromosomes
- Publication
Clinical Genetics, 2013, Vol 84, Issue 1, p78
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.12038