Changing rates of genetic subtypes of Prader|[ndash]|Willi syndrome in the UK

doi:doi:10.1038/sj.ejhg.5201716

European Journal of Human Genetics homepage

European Journal of Human Genetics (2007) 15, 127–130. doi:10.1038/sj.ejhg.5201716; published online 6 September 2006

Changing rates of genetic subtypes of Prader–Willi syndrome in the UK

Joyce E Whittington¹, Jill V Butler¹ and Anthony J Holland¹

¹Department of Psychiatry, Section of Developmental Psychiatry, University of Cambridge, Cambridge, UK

Correspondence: Dr JE Whittington, Department of Psychiatry, University of Cambridge, Douglas House, 18b Trumpington Road, Cambridge CB2 2AH, UK. Tel: +44 01223 746108; Fax: +44 01223 746122; E-mail: jew1000@cam.ac.uk

Received 17 March 2006; Revised 12 July 2006; Accepted 27 July 2006; Published online 6 September 2006.

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Abstract

The genetically determined neurodevelopmental disorder, Prader–Willi syndrome (PWS), has two main genetic subtypes: a 15q11–q13 deletion affecting the paternally inherited chromosome 15 and chromosome 15 maternal uniparental disomy (mUPD) in which two maternal copies of chromosome 15 are inherited but no paternal copy. It has been accepted that these subtypes occur in approximately 70 and 25% of cases, respectively. This is the first report of a greater proportion (50%) of those with PWS due to mUPD in children presently under 5 years living in the UK. Increasing maternal age at conception is likely to explain the changing proportions in this generation of mothers.