Fragile X syndrome: Difference between revisions
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== [[Fragile X syndrome pathophysiology|Pathophysiology]] == | == [[Fragile X syndrome pathophysiology|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. <ref>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 </ref> | |||
== [[Fragile X syndrome causes|Causes]] == | == [[Fragile X syndrome causes|Causes]] == | ||
Revision as of 07:33, 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
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