ArticleAmerican journal of human genetics1992
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 173 citations in OpenAlex.
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.Journal of medical genetics · 1993Guideline
- A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.American journal of human genetics · 1994Trial
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- Article
- Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.Genome research · 2022Review
- Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants inGenes · 2021Article
- Cancer cell line specific co-factors modulate the FOXM1 cistrome.Oncotarget · 2017Article
- A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR.Proceedings of the National Academy of Sciences of the United States of America · 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
- Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders.Brain research · 2014Review
- Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.Advances in experimental medicine and biology · 2014Review
- Circadian rhythm-dependent alterations of gene expression in Drosophila brain lacking fragile X mental retardation protein.PloS one · 2012Article
- Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders.Journal of neurodevelopmental disorders · 2011Article
- The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.The Clinical biochemist. Reviews · 2011Article
- IVF for premature ovarian failure: first reported births using oocytes donated from a twin sister.Reproductive biology and endocrinology : RB&E · 2010Article
- Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.PloS one · 2010Article
- Fragile x mental retardation 1 and filamin a interact genetically in Drosophila long-term memory.Frontiers in neural circuits · 2010Article
- RNA-mediated pathogenesis in fragile X-associated disorders.Neuroscience letters · 2009Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A gene designated "FMR-1" has been isolated at the fragile-X locus. One exon of this gene is carried on a 5.1-kb EcoRI fragment that exhibits length variation in fragile-X patients because of amplification of or insertion into a CGG-repeat sequence. This repeat probably represents the fragile site. The EcoRI fragment also includes an HTF island that is hypermethylated in fragile-X patients showing absence of FMR-1 mRNA. In this paper, we present further evidence that the FMR-1 gene is involved in the clinical manifestation of the fragile-X syndrome and also in the expression of the cellular phenotype. A deletion including the HTF island and exons of the FMR-1 gene was detected in a fragile X-negative mentally retarded male who presented the clinical phenotype of the fragile-X syndrome. The deletion involves less than 250 kb of genomic DNA, including DXS548 and at least five exons of the FMR-1 gene. These data support the hypothesis that loss of function of the FMR-1 gene leads to the clinical phenotype of the fragile-X syndrome. In the fragile-X syndrome, there are pathogenetic mechanisms other than amplification of the CGG repeat that do have the same phenotypic consequences.
Indexed as
Identifiers
1642231PMC1682683W1683691009What OpenQuestion holds
Registered trials
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.