Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

Christina Halgren, Iben Bache, Mads Bak, Mikkel Wanting Myatt, Claire Marie Anderson, Karen Brøndum-Nielsen, Niels Tommerup

27 Citationer (Scopus)

Abstract

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.
OriginalsprogEngelsk
TidsskriftEuropean Journal of Human Genetics
Vol/bind20
Udgave nummer12
Sider (fra-til)1315-9
Antal sider5
ISSN1018-4813
DOI
StatusUdgivet - 2012

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