Document Detail

Beckwith-Wiedemann Syndrome and Long QT Syndrome due to familial balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.
MedLine Citation:
PMID:  23061425     Owner:  NLM     Status:  Publisher    
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 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 long QT syndrome, which should be considered as a rare but serious complication to be searched systematically in patients with BWS due to 11p15 rearrangements.
Sophie Kaltenbach; Yline Capri; Sylvie Rossignol; Isabelle Denjoy; Sophie Soudée; Azzedine Aboura; Clarisse Baumann; Alain Verloes
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-15
Journal Detail:
Title:  Clinical genetics     Volume:  -     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons A/S.
Department of Genetics, Sorbonne-Paris Cité University, Denis Diderot Medical School, APHP - Robert Debré University Hospital.
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