ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 14 citations in OpenAlex.
- In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder.Nature biomedical engineering · 2026Article
- Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.Human genomics · 2025Article
- Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder.Nutrients · 2025Article
- Estimation ofGenetics in medicine open · 2025Article
- Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions.Genetics in medicine open · 2024Article
- Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.Molecular genetics and metabolism · 2023Article
- A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders.NPJ genomic medicine · 2022Article
- Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.European journal of human genetics : EJHG · 2021Article
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- Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.International journal of neonatal screening · 2020Article
- The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.Advances in experimental medicine and biology · 2020Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
purposeWe aimed to estimate the carrier frequency of Zellweger spectrum disorder (ZSD), a rare autosomal recessive disease, and the associated disease incidence based on data from the Exome Aggregation Consortium (ExAC) of approximately 60,000 individuals.
methodsWe obtained variants from ExAC in 13 PEX genes associated with ZSD. Potentially pathogenic missense variants were identified with computational variant analysis tools according to three stringency levels. Using variants classified as potentially pathogenic, we estimated the carrier frequency and the associated incidence for the entire ExAC population and its subpopulations. We also evaluated variants based on pathogenicity criteria for sequence variant interpretation outlined by the American College of Medical Genetics and Genomics (ACMG) and calculated the carrier frequency and incidence based on those variants.
resultsThe bioinformatically estimated incidence rate of ZSD in the ExAC population is 1 in 83,841 using our least stringent pathogenicity cutoff. Under clinical guidelines outlined by ACMG, the estimated incidence is 1 in 3,275,751 births.
conclusionWe outlined a process for estimating the ZSD disease carrier frequency and incidence in a large consortium using bioinformatics tools. Our results are close to current newborn screening estimates in New York of 1 in 90,000 births, estimated from 1.08 million screenings.
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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.