ArticleThe Journal of molecular diagnostics : JMD2008
Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles.
Article in The Journal of molecular diagnostics : JMD, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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17 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Guideline
- Article
- Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Assessment of FMR1 triplet repeats in patients affected with mental retardation, fragile X syndrome and primary ovarian insufficiency.Journal of genetics · 2020Article
- Recent advances in assays for the fragile X-related disorders.Human genetics · 2017Review
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.Genes · 2016Review
- Advanced technologies for the molecular diagnosis of fragile X syndrome.Expert review of molecular diagnostics · 2015Review
- A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.The Journal of molecular diagnostics : JMD · 2014Article
- MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.BMC medical genetics · 2013Article
- FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.The Journal of molecular diagnostics : JMD · 2011Article
- Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.European journal of human genetics : EJHG · 2011Article
- The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.The Clinical biochemist. Reviews · 2011Article
- High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Article
- Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Human molecular genetics · 2010Article
- Precision of pyrosequencing assay to measure LINE-1 methylation in colon cancer, normal colonic mucosa, and peripheral blood cells.The Journal of molecular diagnostics : JMD · 2010Article
- Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.American journal of human genetics · 2009Article
- Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.BMJ case reports · 2009Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X syndrome is the most common cause of inherited mental retardation and the second most common cause of mental impairment after trisomy 21. It occurs because of a failure to express the fragile X mental retardation protein. The most common molecular basis for the disease is the abnormal expansion of the number of CGG repeats in the fragile X mental retardation 1 gene (FMR1). Based on the number of repeats, it is possible to distinguish four types of alleles: normal (5 to 44 repeats), intermediate (45 to 54), premutation (55 to 200), and full mutation (>200). Today, the diagnosis of fragile X syndrome is performed through a combination of PCR to identify fewer than 100 repeats and of Southern blot analysis to identify longer alleles and the methylation status of the FMR1 promoter. We have developed a methylation-specific multiplex ligation-dependent probe amplification assay to analyze male fragile X syndrome cases with long repeat tracts that are not amplifiable by PCR. This inexpensive, rapid and robust technique provides not only a clear distinction between male pre- and full-mutation FMR1 alleles, but also permits the identification of genomic deletions, a less frequent cause of fragile X syndrome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.