Document Detail

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.
MedLine Citation:
PMID:  18775522     Owner:  NLM     Status:  MEDLINE    
We report a child presenting with Alagille and Wolff-Parkinson-White (WPW) syndromes. Standard karyotyping showed a de novo 46,XY,t(1;6)(p31;q16) translocation. Fluorescent in situ hybridization analysis identified a de novo deletion in the 20p12 chromosomal region encompassing JAG1, the major gene responsible for Alagille syndrome. The aberration was further characterized using an Agilent 44K oligonucleotide array, which confirmed the 4.95Mb 20p12 deletion. An additional 8.26Mb deletion was identified at the 6q16 translocation breakpoint. To our knowledge, WPW has never been associated with Alagille syndrome. The patient we describe presented with a 6q16 deletion containing 21 genes but no good candidate genes for WPW. The 20p12 deletion included 19 genes among them JAG1 and BMP2. Recently, two unrelated patients with WPW and BMP2 deletions have been reported. Despite a relationship between WPW and JAG1 deletion cannot be excluded, the JAG1 deletion is unlikely responsible for the ventricular preexcitation since WPW has never been associated with Alagille syndrome. Among the other deleted genes in 20p12, BMP2 appears to be a good candidate responsible for the WPW.
Laurianne Le Gloan; Olivier Pichon; Bertrand Isidor; Michelle Boceno; Jean-Marie Rival; Albert David; Cédric Le Caignec
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-08-15
Journal Detail:
Title:  European journal of medical genetics     Volume:  51     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2008 Nov-Dec
Date Detail:
Created Date:  2008-12-01     Completed Date:  2009-03-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  651-7     Citation Subset:  IM    
CHU de Nantes, Service de Cardiologie, Nantes, France; INSERM, UMR915, l'institut du thorax, Nantes, France; CNRS, ERL3147, Nantes, France; Université de Nantes, Nantes, France.
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MeSH Terms
Alagille Syndrome / genetics*
Bone Morphogenetic Protein 2 / genetics*
Calcium-Binding Proteins / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 20*
Chromosomes, Human, Pair 6*
Infant, Newborn
Intercellular Signaling Peptides and Proteins / genetics*
Membrane Proteins / genetics*
Wolff-Parkinson-White Syndrome / genetics*
Reg. No./Substance:
0/Bone Morphogenetic Protein 2; 0/Calcium-Binding Proteins; 0/Intercellular Signaling Peptides and Proteins; 0/Membrane Proteins; 134324-36-0/Serrate proteins

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