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A microduplication of CBP in a patient with mental retardation and a congenital heart defect
Author(s) -
Thienpont Bernard,
Breckpot Jeroen,
Holvoet Maureen,
Vermeesch Joris R.,
Devriendt Koen
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31893
Subject(s) - haploinsufficiency , rubinstein–taybi syndrome , gene duplication , trisomy , heart defect , intellectual disability , medicine , genetics , gene , heart disease , biology , phenotype
Abstract Rubinstein–Taybi syndrome is a well‐characterized genetic syndrome caused by haploinsufficiency of CBP in a majority of individuals. In 10% of cases a microdeletion in 16p13.3 affecting CBP is detected. We report on a patient with a de novo 345–480 kb micro‐duplication the region, encompassing only CBP and TRAP1 . This boy presented with various minor physical anomalies, moderate mental retardation, and an atrial septal defect, but none of the other typical characteristics of the Rubinstein–Taybi syndrome, such as the broad thumbs and first toes or facial characteristics. This finding implicates CBP as one of the causative genes for the trisomy 16p13 syndrome, and indicates this is a contiguous gene syndrome. © 2007 Wiley‐Liss, Inc.