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The MAGEL2 phenotype in comparison to classic Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a genetically and clinically complex disorder. From a molecular standpoint, a major question has been the contribution of individual genes within the Prader-Willi domain on chromosome 15 to the overall clinical phenotype. Many animal models...

Evaluation of autism-like behaviors in mice deficient for Magel2

MAGEL2 is one of five genes in the Prader-Willi syndrome (PWS) critical domain on chromosome 15 that encodes a protein. Our group recently described a group of patients with mutations of MAGEL2 causing Prader-Willi features and autism. Autism spectrum disorder is...

Gut microbiome in individuals with PWS

Prader-willi syndrome is a genetic disorder caused by loss of a portion of a copy of chromosome 15.  Common features include early problems with muscle weakness and feeding followed by occult weight gain without an increase in food consumption...

Exploring the potential of using demethylation drugs to treat PWS

More than 95% of Prader-Willi syndrome (PWS) cases are caused by either a large deletion of paternal chromosome 15q11-q13 or maternal uniparental disomy (UPD) of chromosome 15. The major gene or genes responsible for PWS are subject to genomic...