Abstract
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems. Over the past few years, there have been a number of advances in our knowledge of FXS and fragile X-associated disorders, and each of these advances offers significant clinical implications. Among these developments are a better understanding of the clinical impact of the phenomenon known as mosaicism, the revelation that various types of mutations can cause FXS, and improvements in treatment for FXS.
| Original language | English (US) |
|---|---|
| Article number | 2112 |
| Journal | F1000Research |
| Volume | 6 |
| DOIs | |
| State | Published - Jan 1 2017 |
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Keywords
- Copy number variants
- FMR1 gene
- Point mutations
- Whole exome sequencing
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
- Immunology and Microbiology(all)
- Pharmacology, Toxicology and Pharmaceutics(all)
Cite this
Fragile X syndrome and fragile X-associated disorders. / Rajaratnam, Akash; Shergill, Jasdeep; Salcedo-Arellano, Maria; Saldarriaga, Wilmar; Duan, Xianlai; Hagerman, Randi J.
In: F1000Research, Vol. 6, 2112, 01.01.2017.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Fragile X syndrome and fragile X-associated disorders
AU - Rajaratnam, Akash
AU - Shergill, Jasdeep
AU - Salcedo-Arellano, Maria
AU - Saldarriaga, Wilmar
AU - Duan, Xianlai
AU - Hagerman, Randi J
PY - 2017/1/1
Y1 - 2017/1/1
N2 - Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems. Over the past few years, there have been a number of advances in our knowledge of FXS and fragile X-associated disorders, and each of these advances offers significant clinical implications. Among these developments are a better understanding of the clinical impact of the phenomenon known as mosaicism, the revelation that various types of mutations can cause FXS, and improvements in treatment for FXS.
AB - Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems. Over the past few years, there have been a number of advances in our knowledge of FXS and fragile X-associated disorders, and each of these advances offers significant clinical implications. Among these developments are a better understanding of the clinical impact of the phenomenon known as mosaicism, the revelation that various types of mutations can cause FXS, and improvements in treatment for FXS.
KW - Copy number variants
KW - FMR1 gene
KW - Point mutations
KW - Whole exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85038435130&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85038435130&partnerID=8YFLogxK
U2 - 10.12688/f1000research.11885.1
DO - 10.12688/f1000research.11885.1
M3 - Review article
C2 - 29259781
AN - SCOPUS:85038435130
VL - 6
JO - F1000Research
JF - F1000Research
SN - 2046-1402
M1 - 2112
ER -