ArticleAmerican journal of human genetics1995
Two new cases of FMR1 deletion associated with mental impairment.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Gene therapy using human FMRP isoforms driven by the humanMolecular therapy. Methods & clinical development · 2022Article
- Review
- 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
- Review
- 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
- Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.BMC pediatrics · 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
- Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction.Journal of assisted reproduction and genetics · 2015Review
- A MicroRNA Profile in Fmr1 Knockout Mice Reveals MicroRNA Expression Alterations with Possible Roles in Fragile X Syndrome.Molecular neurobiology · 2015Article
- Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.Neurogenetics · 2012Article
- The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.The Clinical biochemist. Reviews · 2011Article
- Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Current genomics · 2011Article
- Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.The Journal of biological chemistry · 2009Review
- Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.American journal of medical genetics. Part A · 2008Review
- Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.American journal of human genetics · 2003Article
- The fragile X syndrome.Journal of medical genetics · 1998Review
- Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Screening of families clinically ascertained for the fragile X syndrome phenotype revealed two mentally impaired males who were cytogenetically negative for the fragile X chromosome. In both cases, screening for the FMR1 trinucleotide expansion mutation revealed a rearrangement within the FMR1 gene. In the first case, a 660-bp deletion is present in 40% of peripheral lymphocytes. PCR and sequence analysis revealed it to include the CpG island and the CGG trinucleotide repeat, thus removing the FMR1 promoter region and putative mRNA start site. In the second case, PCR analysis demonstrated that a deletion extended from a point proximal to FMR1 to 25 kb into the gene, removing all the region 5' to exon 11. The distal breakpoint was confirmed by Southern blot analysis and localized to a 600-bp region, and FMR1-mRNA analysis in a cell line established from this individual confirmed the lack of a transcript. These deletion patients provide further confirmatory evidence that loss of FMR1 gene expression is indeed responsible for mental retardation. Additionally, these cases highlight the need for the careful examination of the FMR1 gene, even in the absence of cytogenetic expression, particularly when several fragile X-like clinical features are present.
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7825604PMC1801332What 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.