ArticleEuropean journal of human genetics : EJHG2015
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 86 citations in OpenAlex.
- Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China.Molecular genetics & genomic medicine · 2026Article
- Functional Recovery in Refractory Lower-Limb Complex Regional Pain Syndrome Following KAFO-Assisted Rehabilitation: A Longitudinal Case Report.Clinical case reports · 2026Article
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- Analysis of CGG repeat numbers in the FMR1 gene among women of childbearing age in Northeast Sichuan.BMC genomic data · 2026Article
- The Tale of the Guanosine Tract in Repeat Expansion Disorders.Molecular neurobiology · 2026Review
- Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.World journal of pediatrics : WJP · 2025Article
- Article
- Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective.Frontiers in genetics · 2025Article
- Serum Metabolic and Gut Microbiome Differences in Age-Associated Fragile X Syndrome (FXS) Pediatric Patients May Benefit Clinical Therapy Development.International journal of general medicine · 2025Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Premature ovarian insufficiency.Nature reviews. Disease primers · 2024Review
- A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.Genes · 2024Review
- Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.Frontiers in cardiovascular medicine · 2024Article
- Review
- Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.American journal of medical genetics. Part A · 2023Article
- Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.NPJ genomic medicine · 2022Article
- Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.BMC women's health · 2022Article
- Fragile X Syndrome: From Molecular Aspect to Clinical Treatment.International journal of molecular sciences · 2022Review
- Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.Frontiers in neurology · 2022Review
- A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls.Epilepsy & behavior reports · 2022Article
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Authors and funding
4 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Different mutations occurring in the unstable CGG repeat in 5' untranslated region of FMR1 gene are responsible for three fragile X-associated disorders. An expansion of over ∼200 CGG repeats when associated with abnormal methylation and inactivation of the promoter is the mutation termed 'full mutation' and is responsible for fragile X syndrome (FXS), a neurodevelopmental disorder described as the most common cause of inherited intellectual impairment. The term 'abnormal methylation' is used here to distinguish the DNA methylation induced by the expanded repeat from the 'normal methylation' occurring on the inactive X chromosomes in females with normal, premutation, and full mutation alleles. All male and roughly half of the female full mutation carriers have FXS. Another anomaly termed 'premutation' is characterized by the presence of 55 to ∼200 CGGs without abnormal methylation, and is the cause of two other diseases with incomplete penetrance. One is fragile X-associated primary ovarian insufficiency (FXPOI), which is characterized by a large spectrum of ovarian dysfunction phenotypes and possible early menopause as the end stage. The other is fragile X-associated tremor/ataxia syndrome (FXTAS), which is a late onset neurodegenerative disorder affecting males and females. Because of the particular pattern and transmission of the CGG repeat, appropriate molecular testing and reporting is very important for the optimal genetic counselling in the three fragile X-associated disorders. Here, we describe best practice guidelines for genetic analysis and reporting in FXS, FXPOI, and FXTAS, including carrier and prenatal testing.
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