The Prader-Willi phenotype of fragile X syndrome
Abstract
The Prader-Willi phenotype (PWP) of fragile X syndrome (FXS) is associated with obesity and hyperphagia similar to Prader-Willi syndrome (PWS), but without cytogenetic or methylation abnormalities at 15q11-13. Thirteen cases of PWP and FXS are reported here that were identified by obesity and hyperphagia. Delayed puberty was seen in 5 of 9 cases who had entered puberty, a small penis or testicles in seven of 13 cases, and infant hypotonia and/or a poor suck in seven of 13 cases. Autism spectrum disorder occurred in 10 of 13 cases, and autism was diagnosed in seven of 13 cases. We investigated cytoplasmic interacting FMR1 protein (CYFIP) expression, which is a protein that interacts with FMR1 protein (FMRP) because the gene for CYFIP is located at 15q11-13. CYFIP mRNA levels were significantly reduced in our patients with the PWP and FXS compared to individuals without FXS (p < .001) and also individuals with FXS without PWP (p = .03).
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CYFIP1 is implicated in intellectual disability, autism spectrum disorder, and schizophrenia.
“CYFIP1 is implicated in ID (Cooper et al., 2011, Napoli et al., 2008, Nowicki et al., 2007, Schenck et al., 2003), ASD (Cooper et al., 2011, Doornbos et al., 2009, Murthy et al., 2007, Nishimura et al., 2007, Sahoo et al., 2006, van der Zwaag et al., 2010, von der Lippe et al., 2010), and SCZ (Tam et al., 2010, Zhao et al., 2012).”
From CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation (2013) · cites this paper as Nowicki et al., 2007
In a subgroup of fragile X syndrome patients exhibiting severe autism spectrum disorder and obsessive-compulsive behavior, CYFIP1 mRNA is downregulated, particularly in patients with the Prader-Willi phenotype.
“In a subgroup of fragile X syndrome (FXS) patients exhibiting severe ASD and obsessive‒compulsive behavior, the CYFIP1 mRNA is downregulated, particularly in patients with the Prader‒Willi phenotype108.”
From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [108]
CYFIP1 has been implicated in autism.
“CYFIP1 has been implicated in autism107,108.”
From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [108]
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- Authors
- Nowicki, S. T., Tassone, F., Ono, M. Y., Ferranti, J., Croquette, M. F., Goodlin-Jones, B., & Hagerman, R. J.
- Affiliations
- University of California Davis Medical Center (US)
- University of California, Davis (US)
- Corresponding author
- Nowicki, Stephen T.
- Ono, Michele Y.
- Hagerman, Randi J.
- Venue
- Journal of Developmental & Behavioral Pediatrics
- Published
- 2007-04
- Volume
- 28
- Issue
- 2
- Pages
- 133-138
- ISSN
- 0196-206X (ISSN-L)
- OpenAlex
- W2049902528
- Cited by
- 174
- References
- 0
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 7 · 2023: 4 · 2022: 5 · 2021: 5 · 2020: 11 · 2019: 6 · 2018: 2 · 2017: 9 · 2016: 11 · 2015: 3 · 2014: 10 · 2013: 8 · 2012: 9
- FWCI
- 5.36
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Developmental & Behavioral Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 36071, HD 02274, P30HD002274, R01HD036071)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- fragile X syndrome, obesity, hyperphagia, delayed puberty, hypogonadism, autism spectrum disorder, FMRP, 15q11-13, FMR1 gene
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Chromosomes, Human, Pair 15, Fragile X Syndrome, Gene Expression Regulation, Humans, Male, Phenotype, Prader-Willi Syndrome, Puberty, Delayed, RNA, Messenger, Adaptor Proteins, Signal Transducing, Fragile X Messenger Ribonucleoprotein 1
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