The neurobiology of the prader-willi phenotype of fragile x syndrome

Zukhrofi Muzar, Reymundo Lozano, Alexander Kolevzon, Randi J Hagerman

Research output: Contribution to journalReview article

8 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)255-261
Number of pages7
JournalIntractable and Rare Diseases Research
Volume5
Issue number4
DOIs
StatePublished - 2016

Fingerprint

Fragile X Syndrome
Neurobiology
Satiation
Prader-Willi Syndrome
Phenotype
Hyperphagia
Morbid Obesity
Intellectual Disability
X Chromosome
Autistic Disorder
Genetic Promoter Regions
Meals
Therapeutics

Keywords

  • Autism
  • FMR1 gene
  • Fragile X syndrome (FXS)
  • Growth hormone
  • Hyperphagia
  • IGF-1
  • Prader-Willi phenotype

ASJC Scopus subject areas

  • Medicine(all)

Cite this

The neurobiology of the prader-willi phenotype of fragile x syndrome. / Muzar, Zukhrofi; Lozano, Reymundo; Kolevzon, Alexander; Hagerman, Randi J.

In: Intractable and Rare Diseases Research, Vol. 5, No. 4, 2016, p. 255-261.

Research output: Contribution to journalReview article

Muzar, Zukhrofi ; Lozano, Reymundo ; Kolevzon, Alexander ; Hagerman, Randi J. / The neurobiology of the prader-willi phenotype of fragile x syndrome. In: Intractable and Rare Diseases Research. 2016 ; Vol. 5, No. 4. pp. 255-261.
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