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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

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  1. Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts

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  2. Haploinsufficiency of ARHGAP42 is associated with hypertension

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  3. Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

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  4. The Global State of the Genetic Counseling Profession

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  5. Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits

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  1. Haploinsufficiency of ARHGAP42 is associated with hypertension

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

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  3. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

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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.
Original languageEnglish
JournalEuropean Journal of Human Genetics
Volume20
Issue number12
Pages (from-to)1315-9
Number of pages5
ISSN1018-4813
DOIs
Publication statusPublished - 2012

ID: 36883495