title: The neurobiology of the Prader-Willi phenotype of fragile X syndrome.
abstract: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism, caused by a CGG expansion to greater than 200 repeats in the promoter region ofFMR1on the bottom of the X chromosome. A subgroup of individuals with FXS experience hyperphagia, lack of satiation after meals and severe obesity, this subgroup is referred to have the Prader-Willi phenotype of FXS. Prader-Willi syndrome is one of the most common genetic severe obesity disorders known and it is caused by the lack of the paternal 15q11-13 region. Affected individuals suffer from hyperphagia, lack of satiation, intellectual disability, and behavioral problems. Children with fragile X syndrome Prader-Willi phenotye and those with Prader Willi syndrome have clinical and molecular similarities reviewed here which will impact new treatment options for both disorders.
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA; Department of Histology, Universitas Muhammadiyah Sumatera Utara (UMSU) Faculty of Medicine, Medan, North Sumatera, Indonesia.
authors.forename: Zukhrofi
authors.initials: Z
authors.lastname: Muzar
authors.affiliation: Seaver Autism Center for Research and Treatment, Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Reymundo
authors.initials: R
authors.lastname: Lozano
authors.affiliation: Seaver Autism Center for Research and Treatment, Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Alexander
authors.initials: A
authors.lastname: Kolevzon
authors.affiliation: Seaver Autism Center for Research and Treatment, Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
keywords: Autism; FMR1 gene; Fragile X syndrome (FXS); Growth hormone; Hyperphagia; IGF-1; Prader-Willi phenotype