ArticleJournal of medical genetics1998
Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 99 citations in OpenAlex.
- The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.American journal of medical genetics. Part A · 2022Article
- Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.Annals of laboratory medicine · 2021Article
- Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions.PloS one · 2019Article
- Article
- FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of theFrontiers in genetics · 2018Article
- Inheritable epigenetic response towards foreign DNA entry by mammalian host cells: a guardian of genomic stability.Epigenetics · 2018Review
- Size and methylation mosaicism in males with Fragile X syndrome.Expert review of molecular diagnostics · 2017Article
- Recent advances in assays for the fragile X-related disorders.Human genetics · 2017Review
- FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.Pediatrics · 2017Article
- CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.Stem cell reports · 2016Article
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.Genes · 2016Review
- Review
- A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.The Journal of molecular diagnostics : JMD · 2016Article
- CGG-repeat dynamics andMolecular autism · 2016Article
- Quadruplex formation by both G-rich and C-rich DNA strands of the C9orf72 (GGGGCC)8•(GGCCCC)8 repeat: effect of CpG methylation.Nucleic acids research · 2015Article
- The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation.Human mutation · 2015Article
- Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.Human mutation · 2014Article
- Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.European journal of pediatrics · 2014Article
- CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Journal of medical genetics · 2014Article
- Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders.Human mutation · 2014Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on further cases of high functioning fragile X males showing decreased expression of FMR1 protein, absence of detectable methylation at the EagI site in the FMR1 gene promoter, and highly unusual patterns of fragile X mutations defined as smear of expansions extending from premutation to full mutation range. Very diffuse and therefore not easily detectable patterns of full mutations were also observed on prenatal testing using DNA from chorionic villi sampled at a time of development when full mutations were still unmethylated in this particular tissue. In the search for possible determinants of such unusual patterns, repeat expansions in the premutation and in the lower full mutation range were identified on genomic PstI blots previously prepared for fragile X DNA testing. Cases with 130 or more triplets, and a number of shorter repeats, were reinvestigated on EcoRI plus EagI digests. Among the 119 expansions, there were 22 in our sample showing either blurred bands or smears on PstI blots. This particular characteristic was strongly associated with the coincidence of a repeat size of more than 130 triplets and absence of EagI site methylation. Our data set also includes cases of mosaic patterns consisting of smears of unmethylated expansions to more than 130 CGGs and of clear bands of methylated expansions. We therefore suggest that in fragile X syndrome unusual smeared patterns of mutations result from somatic instability of larger repeats under circumstantial absence of repeat methylation.
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