Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect |
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Authors: | A Schulze C Hansen P Bækgaard S Blichfeldt MB Petersen N Tommerup K Brndum-Nielsen |
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Institution: | Department of Medical Genetics and Danish Center for Human Genome Research, The John F. Kennedy Institute;Center for Handicapped Children, Department of Pediatrics, University Hospital of Copenhagen in Glostrup;Department of Pediatrics, Rigshospitalet, University Hospital of Copenhagen;Department of Medical Genetics, IMBG, University of Copenhagen, Copenhagen, Denmark |
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Abstract: | Abstract Prader-Willi syndrome (PWS) is a neuroendocrine disorder caused by a non-functioning paternally derived gene(s) within the chromosome region 15q11-q13. Most cases result from microscopically visible deletions of paternal origin, or maternal uniparental disomy of chromosome 15. In both instances no recurrence has been reported. In rare cases, PWS is associated with lack of gene expression from the paternal allele due to an imprinting defect. We report the clinical features and the molecular genetic analysis of the first Danish child with PWS due to a defect of the putative imprinting centre (IC). When the imprinting mutation is inherited from a carrier father, the risk that future children will be affected is theoretically 50%. It is therefore important that these families are referred to a geneticist for counselling and further investigation. Prenatal diagnosis is currently only feasible when the mutation has been identified in the affected child. |
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Keywords: | Chromosome 15 genetic counselling imprinting methylation Prader-Willi syndrome recurrence risk |
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