ArticlePloS one2010
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants inGenes · 2021Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction.Molecular psychiatry · 2020Review
- 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
- Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.BMC pediatrics · 2015Article
- Fragile X mental retardation protein regulates olfactory sensitivity but not odorant discrimination.Chemical senses · 2015Article
- A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.EMBO molecular medicine · 2015Article
- EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.European journal of human genetics : EJHG · 2015Article
- C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Acta neuropathologica · 2014Article
- Article
- Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2012Review
- The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.The Clinical biochemist. Reviews · 2011Article
- A nonsense mutation in FMR1 causing fragile X syndrome.European journal of human genetics : EJHG · 2011Article
- Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.American journal of medical genetics. Part A · 2010Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundFragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a functional null mutation, few conventional mutations have been identified at this locus, largely due to the clinical laboratory focus on the repeat tract. METHODOLOGY/PRINCIPAL
findingsTo more thoroughly evaluate the frequency of conventional mutations in FXS-like patients, we used an array-based method to sequence FMR1 in 51 unrelated males exhibiting several features characteristic of FXS but with normal CGG-repeat tracts of FMR1. One patient was identified with a deletion in FMR1, but none of the patients were found to have other conventional mutations. CONCLUSIONS/SIGNIFICANCE: These data suggest that missense mutations in FMR1 are not a common cause of the FXS phenotype in patients who have normal-length CGG-repeat tracts. However, screening for small deletions of FMR1 may be of clinically utility.
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