Psychiatric disability associated with the fragile X chromosome
Abstract
Fragile X (or Martin‐Bell) syndrome, a common, genetic, mental retardation disorder is increasingly being recognized as a major cause of cognitive disability and psychiatric illness in boys. Here, we present a study in which relatives in 4 generations of a large family with the fra(X) chromosome were given comprehensive psychiatric evaluations in order to further describe the psychopathology associated with this condition. Three of 4 males with the fra(X) chromosome were found to have autistic behavior. An adult fra(X) male had a chronic schizoaffective disorder and mental retardation. In femal relatives, a relationship was found between the fra(X) carrier status and psychopathology including schizoaffective and major affective disorders.
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Mutations in the CYFIP1 network might explain part of the autistic features observed in FXS patients.
“Our findings suggest that mutations in the CYFIP1 network might explain part of the autistic features observed in FXS patients (Farzin et al., 2006), which can also suffer from psychosis (Reiss et al., 1986).”
From CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation (2013) · cites this paper as Reiss et al., 1986
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De Rubeis, S., Pasciuto, E., Li, K. W., Fernández, E., Di Marino, D., Buzzi, A., Ostroff, L. E., Klann, E., Zwartkruis, F. J. T., Komiyama, N. H., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.06.039 · Cited by 296 · see citing works
- Authors
- Reiss, A. L., Feinstein, C., Goldsmith, K. E. T. B., Rosenbaum, K., Caruso, M. A., Opitz, J. M., & Reynolds, J. F.
- Affiliations
- Children's National (US)
- Corresponding author
- Reiss, A. L.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1986-01
- Volume
- 23
- Issue
- 1-2
- Pages
- 393-401
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W1963621449
- Cited by
- 52
- References
- 0
- Citations by year
- 2013: 1
- FWCI
- 4.57
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- fragile X syndrome, psychiatric disability, intellectual disability, autism spectrum disorder, schizoaffective disorder, mood disorders, carrier state, family studies, psychopathology
- MeSH terms
- Adolescent, Adult, Aged, Autistic Disorder, Mental Disorders, Bipolar Disorder, Child, Depressive Disorder, Female, Fragile X Syndrome, Heterozygote, Humans, Male, Middle Aged, Pedigree, Psychotic Disorders, Schizophrenia, Sex Chromosome Aberrations, Mood Disorders
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