Endocrine Abstracts

Prader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by a lack of paternal gene expression from 15q11–q13 and is characterised by failure to thrive in infancy, followed by hyperphagia due to abnormal satiety responses and increased motivation by food. We investigated growth and metabolism a mouse model in which the imprinting centre (IC) of the homologous PWS interval has been deleted (PWS-IC mice). Growth retardation only emerged post-natally, with ad...

Background: Prader-Willi syndrome (PWS) is a complex rare genetic disorder associated with hypothalamic dysfunction, pituitary hormone deficiencies, hyperphagia and (morbid) obesity. PWS is caused by loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common genetic mechanisms leading to PWS are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided in type 1 and (smaller) type 2 deletions (DEL-1, DEL-2). Most re...