ArticleJournal of human genetics2018
Genetic cluster of fragile X syndrome in a Colombian district.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review.Movement disorders clinical practice · 2026Article
- Understanding pathophysiology in fragile X syndrome: a comprehensive review.Neurogenetics · 2024Review
- Article
- Phenotypic variability to medication management: an update on fragile X syndrome.Human genomics · 2023Review
- Clusters of rare disorders and congenital anomalies in South America.Revista panamericana de salud publica = Pan American journal of public health · 2023Review
- Raising Knowledge and Awareness of Fragile X Syndrome in Serbia, Georgia, and Colombia: A Model for Other Developing Countries?The Yale journal of biology and medicine · 2021Article
- Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Fragile X Syndrome Secondary to in Vitro Fertilization With a Family Egg Donor: A Case Report and Review of the Literature.Journal of family & reproductive health · 2021Article
- Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community.Molecular genetics & genomic medicine · 2021Article
- Surveillance and prevalence of fragile X syndrome in Indonesia.Intractable & rare diseases research · 2021Review
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.International journal of molecular sciences · 2020Review
- Fragile X associated neuropsychiatric disorders in a male without FXTAS.Intractable & rare diseases research · 2020Article
- Developmental aspects of FXAND in a man with the FMR1 premutation.Molecular genetics & genomic medicine · 2020Article
- The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity.Molecular genetics & genomic medicine · 2019Article
- Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2019Article
- Fragile X syndrome and fragile X-associated disorders.F1000Research · 2017Review
- Fragile X Syndrome in children.Colombia medica (Cali, Colombia)Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene FMR1 in the general population is 0.2-0.4 per 1000 males and 0.125-0.4 per 1000 females. Population screening for FMR1 expanded alleles has been performed in newborns and in an adult population. However, it has never been carried out in an entire town. Ricaurte is a Colombian district with 1186 habitants, with a high prevalence of FXS, which was first described by cytogenetic techniques in 1999.
methodsUsing a PCR-based approach, screening for FXS was performed on blood spot samples obtained from 926 (502 males and 424 females) inhabitants from Ricaurte, accounting for 78% of total population.
resultsA high prevalence of carriers of the expanded allele was observed in all FXS mutation categories. Using the Bayesian methods the carrier frequency of FM was 48.2 (95% Credibility Region CR: 36.3-61.5) per 1000 males and 20.5 (95% CR:13.5-28.6) per 1000 females; the frequency of premutation carrier was 14.1 (95% RC: 8.0-21.7) per 1000 males (95% RC: 8.0-21.7 per 1000 males) and 35.9 (95% RC: 26.5-46.2) per 1000 for females (95% RC: 26.5-46.2 per 1000 females), and gray zone carrier was 13.4 (95% RC: 7.4-20.7) per 1000 males (95% RC: 7.4-20.7 per 1000 males) and 42.2 (95% RC: 32.2-53.8) per 1000 for females (95% RC: 32.2-53.8 per 1000 females). Differences in carrier frequencies were observed for premutation and FM alleles between natives and non-natives.
conclusionsThis study shows that in Ricaurte the carrier frequencies of FMR1 expanded alleles (premutations and FMs) are higher than those reported in the literature, suggesting that Ricaurte constitutes a genetic cluster of FXS.
Indexed as
Identifiers
What 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.