Taxon:

Human

Gene:

"Angelman syndrome"

Chromosome:

15

Location:

15q11-q13 (00)

Description:

Angelman syndrome is caused by loss of expression (in the brain) of the imprinted (maternally expressed) gene, UBE3A. UBE3A function can be disrupted by paternal UPD (1-2% of cases), maternal deletion (75%), loss of methylation at the SNURF TSS-DMR (~3%) and mutations of UBE3A itself (5-10%) (Soellner L et al 2017).
Angelman syndrome is characterised by microcephaly, seizures, ataxia, muscular hypotonia and motor delay (Buiting K et al 2016).

Category:

Imprinting disorder

Record:

180

Last Modified 1/30/2017

Links:

OMIM   


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