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 of FMR1 on 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.
Original language | English (US) |
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Pages (from-to) | 255-261 |
Number of pages | 7 |
Journal | Intractable and Rare Diseases Research |
Volume | 5 |
Issue number | 4 |
DOIs | |
State | Published - 2016 |
Keywords
- Autism
- FMR1 gene
- Fragile X syndrome (FXS)
- Growth hormone
- Hyperphagia
- IGF-1
- Prader-Willi phenotype
ASJC Scopus subject areas
- Medicine(all)