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FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing
- Source :
- American Journal of Medical Genetics Part A. 176:1304-1308
- Publication Year :
- 2018
- Publisher :
- Wiley, 2018.
-
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.
- Subjects :
- 0301 basic medicine
congenital, hereditary, and neonatal diseases and abnormalities
Population
Ethnic group
Carrier testing
Cohort Studies
Fragile X Mental Retardation Protein
03 medical and health sciences
0302 clinical medicine
Gene Frequency
Mutation Rate
030225 pediatrics
Intellectual disability
Genetics
medicine
Humans
Allele
education
Genetics (clinical)
Retrospective Studies
education.field_of_study
business.industry
Genetic Carrier Screening
medicine.disease
FMR1
Fragile X syndrome
030104 developmental biology
Risk Estimate
Fragile X Syndrome
Female
Trinucleotide Repeat Expansion
business
Demography
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 176
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....a78ddc42fb206c31b56f77e4abf31a01