期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 20, 期 12, 页码 1315-1319出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2012.92
关键词
CELF4; 18q12 deletion; developmental disorder; behavioral disorder; obesity; next-generation mate pair sequencing
资金
- Danish National Research Foundation
- Lundbeck Foundation
- UNIK program 'Food, Fitness and Pharma'
- Danish Ministry of Science, Technology, and Innovations
- Danish Strategic Research Council
- Lundbeck Foundation [R67-2010-6206, R13-2007-1172, R34-2009-3999] Funding Source: researchfish
Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, and eye manifestations. Here, we report a male patient with a de novo translocation involving chromosomes 12 and 18, with borderline IQ, developmental and behavioral disorders, myopia, obesity, and febrile seizures in childhood. We characterized the rearrangement with Affymetrix SNP 6.0 Array analysis and next-generation mate pair sequencing and found truncation of CELF4 at 18q12.2. This second report of a patient with a neurodevelopmental phenotype and a translocation involving CELF4 supports that CELF4 is responsible for the phenotype associated with deletion of 18q12.2. Our study illustrates the utility of high-resolution genome-wide techniques in identifying neurodevelopmental and neurobehavioral genes, and it adds to the growing evidence, including a transgenic mouse model, that CELF4 is important for human brain development. European Journal of Human Genetics (2012) 20, 1315-1319; doi:10.1038/ejhg.2012.92; published online 23 May 2012
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