Fragile X syndrome: Difference between revisions
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== [[Fragile X syndrome causes|Causes]] == | == [[Fragile X syndrome causes|Causes]] == | ||
Fragile x Syndrome is a genetic disease which is caused by mutation in the Fragile x Mental Retardation 1(FMR1) gene in X chromosome. Generally, these mutation (>200 repeats of CGG) occurs at in the 5' untranslated region of FMR1.<ref name="pmid22017584">{{cite journal| author=Santoro MR, Bray SM, Warren ST| title=Molecular mechanisms of fragile X syndrome: a twenty-year perspective. | journal=Annu Rev Pathol | year= 2012 | volume= 7 | issue= | pages= 219-45 | pmid=22017584 | doi=10.1146/annurev-pathol-011811-132457 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22017584 }} </ref> In around 2% of cases, Fragile X syndrome can occur as a result of point mutation in FMR1 gene.<ref name="pmid22188182">{{cite journal| author=Peprah E| title=Fragile X syndrome: the FMR1 CGG repeat distribution among world populations. | journal=Ann Hum Genet | year= 2012 | volume= 76 | issue= 2 | pages= 178-91 | pmid=22188182 | doi=10.1111/j.1469-1809.2011.00694.x | pmc=3288311 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22188182 }} </ref> | |||
== [[Fragile X syndrome differential diagnosis|Differentiating Fragile X syndrome from other Diseases]] == | == [[Fragile X syndrome differential diagnosis|Differentiating Fragile X syndrome from other Diseases]] == | ||
Revision as of 07:52, 15 July 2021
For patient information click here
| Fragile X syndrome | |
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| Location of FMR1 gene | |
| ICD-10 | Q99.2 |
| ICD-9 | 759.83 |
| OMIM | 309550 |
| DiseasesDB | 4973 |
| MeSH | D005600 |
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Fragile X syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Fragile X syndrome On the Web |
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American Roentgen Ray Society Images of Fragile X syndrome |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords:: Martin-bell syndrome; marker X syndrome, escalante's syndrome
Overview
Fragile x syndrome is the leading inherited cause of intellectual disorder and autism spectrum disorder with severe behavioral abnormalities . It is an X linked disorder, affecting both males and females. It is a genetic disease caused by CGG trinucleotide expansion (>200 CGG repeats).
Historical Perspective
Fragile X syndrome was described first by Martin and Bell in 1943. [1]
Classification
Pathophysiology
Fragile x syndrome has an x-linked dominant inheritance. It is caused by an expansion of CGG trinucleotide repeat within FMR1 gene on X chromosome. Due to high number of CGG repeats (>200), this leads to methylation of part of gene on X chromosome that codes for Fragile X Mental retardation protein (FMRP), which is required for proper development of connections between neurons. [2]
Causes
Fragile x Syndrome is a genetic disease which is caused by mutation in the Fragile x Mental Retardation 1(FMR1) gene in X chromosome. Generally, these mutation (>200 repeats of CGG) occurs at in the 5' untranslated region of FMR1.[3] In around 2% of cases, Fragile X syndrome can occur as a result of point mutation in FMR1 gene.[4]
Differentiating Fragile X syndrome from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Primary Prevention | Secondary Prevention | Cost Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
External links
Template:Pervasive developmental disorders Template:Chromosomal abnormalities
- ↑ Martin JP, Bell J. A pedigree of mental defect showing sex- linkage. J Neurol Psychiatry. 1943; 6(3-4): 154–7.
- ↑ 1. fragile X syndrome - Genetics Home Reference [Internet]. 2016 [cited 2021 Jul 15]. Available from: https://web.archive.org/web/20161009162713/https://ghr.nlm.nih.gov/condition/fragile-x-syndrome
- ↑ Santoro MR, Bray SM, Warren ST (2012). "Molecular mechanisms of fragile X syndrome: a twenty-year perspective". Annu Rev Pathol. 7: 219–45. doi:10.1146/annurev-pathol-011811-132457. PMID 22017584.
- ↑ Peprah E (2012). "Fragile X syndrome: the FMR1 CGG repeat distribution among world populations". Ann Hum Genet. 76 (2): 178–91. doi:10.1111/j.1469-1809.2011.00694.x. PMC 3288311. PMID 22188182.