Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Haploinsufficiency of ARHGAP42 is associated with hypertension

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. The Global State of the Genetic Counseling Profession

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  4. Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Haploinsufficiency of ARHGAP42 is associated with hypertension

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer
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

ID: 36883495