Taxon:

Human

Gene:

"Prader-Willi syndrome" (PWS)

Chromosome:

15

Location:

15q11-q13 (0)

Description:

Prader-Willi syndrome (PWS) is a contiguous gene syndrome involving several imprinted genes in 15q11-q13 which can occur by three different molecular mechanisms, ie, large deletions (70-75%), maternal UPD (25-30%), or imprinting mutations (2-5%) (Glenn CC et al, 1997; Nicholls RD, 1998; Nicholls RD and Knepper JL, 2001; Bittel DC, Butler MG, 2004). See individual entries for 15q.
Cases of PWS having microdeletion suggest that loss of SNORD116@ (the HBII-85 cluster) and/or SNORD19A (HBII-438A) snoRNAs cause the key characteristics of PWS (Sahoo T et al, 2008; Gallagher RC et al, 2002; de Smith et al, 2009; Duker AL et al, 2010). Studies on a family with complete deletion of the HBII-52 cluster have excluded a major role for this cluster in PW (Runte M et al, 2004).
Deletion of murine MBII-85 snoRNA (equivalent to human SNORD116@, small nucleolar RNA, C/D box 116 cluster) caused postnatal growth retardation, with about 15% postnatal lethality indicating a functional role for the MBII-85 snoRNA (Skryabin BV et al 2007).
The mouse phenotype resulting from disruption of Necdin suggests a role for human NDN in PWS (Muscatelli F et al, 2000).
Some of the phenotypic features of Magel2 knockout mice resemble Prader-Willi syndrome features (neonatal growth retardation, excessive weight gain after weaning, and increased adiposity with altered metabolism in adulthood) (Bischof JM et al, 2007).

Category:

Imprinting disorder

Record:

43

Last Modified 1/27/2017

Links:

OMIM   


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