Beckwith Weidemann Syndrome: A Behavioral Phenotype-Genotype Study
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Colleges, School and Institutes
Neurobehavioral defects have been reported in human imprinting disorders such as Prader-Willi syndrome and Angelman syndrome and imprinted genes are often implicated in neuro-development processes. Beckwith-Wiedemann syndrome (BWS) is a classical human imprinting disorder characterized by prenatal and postnatal overgrowth and variable developmental anomalies. As neurodevelopmental aspects of BWS have not previously been studied in detail, we undertook a questionnaire based neurobehavioral survey of 87 children with BWS. A greater than expected proportion of children demonstrated abnormal scores on measures of emotional and behavioral difficulties. In addition, 6.8% of children had been diagnosed with an autistic spectrum disorder (ASD). 4/6 BWS children with ASD had normal chromosomes and ASD occurred in children with UPD and imprinting center 2 defects. These findings suggest a potential role for the 11p15.5 imprinted gene cluster in ASD and indicate a need for further investigations of neurobehavioral phenotypes in BWS. (C) 2008 Wiley-Liss, Inc.
|Number of pages||3|
|Journal||American Journal of Medical Genetics Part B: Neuropsychiatric Genetics|
|Publication status||Published - 1 Oct 2008|
- behavioral genetics, psychopathology, imprinting disorders, 11p15.5