Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study
- 01-03-2013
- Original Paper
Gepubliceerd in:
- Auteurs
-
Flora Tassone
Corresponderende auteur Flora Tassone
- Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, 95817, Sacramento, USA
- MIND Institute, University of California Davis Health System, Sacramento, USA
-
Nimrah S. Choudhary
Nimrah S. Choudhary
- Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, 95817, Sacramento, USA
-
Federica Tassone
Federica Tassone
- Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, 95817, Sacramento, USA
-
Blythe Durbin-Johnson
Blythe Durbin-Johnson
- Department of Public Health Sciences, School of Medicine, University of California, Davis, Davis, USA
-
Robin Hansen
Robin Hansen
- MIND Institute, University of California Davis Health System, Sacramento, USA
- Department of Pediatrics, School of Medicine, University of California, Davis, Sacramento, USA
-
Irva Hertz-Picciotto
Irva Hertz-Picciotto
- MIND Institute, University of California Davis Health System, Sacramento, USA
- Department of Public Health Sciences, School of Medicine, University of California, Davis, Davis, USA
- UC Davis Center for Children’s Environmental Health and Disease Prevention, University of California, Davis, Davis, USA
-
Isaac Pessah
Corresponderende auteur Isaac Pessah
- MIND Institute, University of California Davis Health System, Sacramento, USA
- Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, 95616, Davis, USA
- UC Davis Center for Children’s Environmental Health and Disease Prevention, University of California, Davis, Davis, USA
- Gepubliceerd in
- Journal of Autism and Developmental Disorders | Uitgave 3/2013
Abstract
Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (>200 repeats) in the 5′UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD.
- Titel
- Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study
- Auteurs
-
Flora Tassone
Nimrah S. Choudhary
Federica Tassone
Blythe Durbin-Johnson
Robin Hansen
Irva Hertz-Picciotto
Isaac Pessah
- Publicatiedatum
- 01-03-2013
- Uitgeverij
- Springer US
- Gepubliceerd in
-
Journal of Autism and Developmental Disorders / Uitgave 3/2013
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432 - DOI
- https://doi.org/10.1007/s10803-012-1580-2
Deze inhoud is alleen zichtbaar als je bent ingelogd en de juiste rechten hebt.
Deze inhoud is alleen zichtbaar als je bent ingelogd en de juiste rechten hebt.