ArticlePloS one2016
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.Pediatrics · 2024Guideline
- Recurrent eosinophilia with a novel homozygous ARPC1B mutation.Frontiers of medicine · 2025Article
- Facilitators and Barriers to Increasing Equity in Cystic Fibrosis Newborn Screening Algorithms.Pediatric pulmonology · 2025Article
- Influence of selection on the probability of fixation at a locus with multiple alleles.BMC genomics · 2024Article
- High rates of anxiety detected in mothers of children with inconclusive cystic fibrosis screening results.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2023Article
- Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in the Cystic Fibrosis Registry.Annals of the American Thoracic Society · 2023Article
- Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.Respiratory medicine case reports · 2022Article
- Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.Cold Spring Harbor perspectives in medicine · 2020Review
- Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.Molecular diagnosis & therapy · 2020Article
- The Role of ExtendedInternational journal of neonatal screening · 2020Review
- Image-based β-adrenergic sweat rate assay captures minimal cystic fibrosis transmembrane conductance regulator function.Pediatric research · 2020Article
- Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.BMC pediatrics · 2019Article
- Myeloperoxidase oxidation of methionine associates with early cystic fibrosis lung disease.The European respiratory journal · 2018Observational
- Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.American journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundOf the 2007 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations, 202 have been assigned disease liability. California's racially diverse population, along with CFTR sequencing as part of newborn screening model, provides the opportunity to examine the phenotypes of children with uncategorized mutations to help inform disease liability and penetrance.
methodsWe conducted a retrospective cohort study based on children screened from 2007 to 2011 and followed for two to six years. Newborns that screened positive were divided into three genotype groups: those with two CF-causing mutations (CF-C); those with one mutation of varying clinic consequence (VCC); and those with one mutation of unknown disease liability (Unknown). Sweat chloride tests, pancreatic sufficiency status, and Pseudomonas aeruginosa colonization were compared.
resultsChildren with two CF-causing mutations had a classical CF phenotype, while 5% of VCC (4/78) and 11% of Unknown (27/244) met diagnostic criteria of CF. Children carrying Unknown mutations 2215insG with D836Y, and T1036N had early and classical CF phenotype, while others carrying 1525-42G>A, L320V, L967S, R170H, and 296+28A>G had a benign clinical presentation, suggesting that these are non-CF causing.
conclusionsWhile most infants with VCC and Unknown CFTR mutations do not meet diagnostic criteria for CF, a small proportion do. These findings highlight the range of genotypes and phenotypes in the first few years of life following CF newborn screening when CFTR sequencing is performed.
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