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A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene
Author(s) -
Sofos Elvera,
Pescosolido Matthew F.,
Quintos Jose B.,
Abuelo Dianne,
Gunn Shelly,
Hovanes Karine,
Morrow Eric M.,
Shur Natasha
Publication year - 2012
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.34290
Subject(s) - gene duplication , proband , intellectual disability , genetics , comparative genomic hybridization , microarray , gene , copy number variation , biology , bioinformatics , medicine , genome , mutation , gene expression
We evaluated a patient with mild intellectual disability, obesity, overgrowth, and dysmorphic features. Array comparative genomic hybridization (aCGH) analysis showed a single copy number increase of a BAC clone in the 11p15.4 region. Oligonucleotide aCGH refined the duplication to approximately 2.29 megabases (Mb) in size. Testing the parents revealed that the father, who had learning disabilities and overgrowth, also had the 11p15.4 duplication, and the mother had a normal microarray. In addition, the patient's brother and grandmother all share clinical features with the proband and tested positive for the duplication. The duplicated region (Chr11:6,934,067‐9,220,605) encompasses 29 genes, including the ZNF214 gene, which has been postulated to play a role in Beckwith–Wiedemann syndrome [Alders et al., 2000]. This three‐generation pedigree outlines features of a novel microduplication syndrome. © 2011 Wiley Periodicals, Inc.