ArticleAmerican journal of medical genetics. Part A2018
FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing.
Article in American journal of medical genetics. Part A, 2018. 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, 22 citations in OpenAlex.
- Discourse Marker Use in Mothers of Autistic Individuals and FMR1 Premutation Carriers.Journal of autism and developmental disorders · 2026Article
- Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.World journal of pediatrics : WJP · 2025Article
- A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.International journal of molecular sciences · 2025Article
- Article
- Prevalence and implications of fragile X premutation screening in Thailand.Scientific reports · 2024Article
- Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.International journal of molecular sciences · 2023Review
- Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.Molecular genetics & genomic 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
- Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- The Phenotypic Profile Associated With theFrontiers in psychiatry · 2021Article
- Zebrafish Chromosome 14 Gene Differential Expression in theFrontiers in genetics · 2021Article
- Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.Molecular genetics & genomic medicine · 2020Article
- Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation.Physiology & behavior · 2020Article
- Article
- FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing.American journal of medical genetics. Part A · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is caused by an expansion of cytosine-guanine-guanine (CGG) repeats in the FMR1 gene. Female premutation allele carriers (55-200 CGG repeats) are at risk to have an affected child. Currently, specific population-based carrier screening for FXS is not recommended. Previous studies exploring female premutation carrier frequency have been limited by size or ethnicity. This retrospective study provides a pan-ethnic estimate of the Fragile X premutation carrier frequency in a large, ethnically diverse population of women referred for routine carrier screening during a specified time period at Progenity, Inc. Patient ethnicity was self-reported and categorized as: African American, Ashkenazi Jewish, Asian, Caucasian, Hispanic, Native American, Other/Mixed/Unknown, or Sephardic Jewish. FXS test results were stratified by ethnicity and repeat allele category. Total premutation carrier frequency was calculated and compared against each ethnic group. A total of 134,933 samples were included. The pan-ethnic premutation carrier frequency was 1 in 201. Only the Asian group differed significantly from this frequency. Using the carrier frequency of 1 in 201, a conservative pan-ethnic risk estimate for a male fetus to have FXS can be calculated as 1 in 2,412. This risk is similar to the highest ethnic-based fetal risks for cystic fibrosis and spinal muscular atrophy, for which population-wide screening is currently recommended. This study adds to the literature and supports further evaluation into specific population-wide screening recommendations for FXS.
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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.