ArticleGenetic testing and molecular biomarkers2016
Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.
Article in Genetic testing and molecular biomarkers, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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Who cites it
12 citing papers in PubMed, 34 citations in OpenAlex.
- Theratyping as a tool to guide clinical decision-making in patients with suspected cystic fibrosis and variants currently ineligible for CFTR modulator therapy.Respiratory medicine · 2025Article
- Cystic fibrosis in Vietnam and Southeast Asia: underdiagnosis and genetic spectrum.Journal of community genetics · 2025Review
- The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2024Observational
- Increased prevalence ofHeliyon · 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 People with Cystic Fibrosis from the U.S. Patient Registry.Annals of the American Thoracic Society · 2023Article
- Novel mutation c.1210-3C > G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis.Frontiers of medicine · 2022Article
- Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.International journal of neonatal screening · 2021Article
- Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.Human mutation · 2021Article
- CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?Diagnostics (Basel, Switzerland) · 2020Article
- Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis.International journal of neonatal screening · 2020Review
- Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundAt the cystic fibrosis transmembrane conductance regulator (CFTR) gene (IVS8)-(TG)m(T)n locus, a lower number of thymidines (legacy names 9T vs. 7T vs. 5T) and a higher number of (TG) repeats (TG-11 vs. 12 vs. 13) are associated with decreasing translation of functional CFTR protein in vitro.
methodsRetrospective cohort study comparing phenotypes of California CF newborn screen-positive children (followed 2-8 years) who had two CF-causing mutations (diagnosed as CF) with those who had one mutation from a panel of 40 CF-causing mutations (CF40mut) and one (IVS8)-(TG)11, 12, or 13-5T mutation detected by sequencing (diagnosed as CFTR-related metabolic syndrome [cRMS]).
resultsThe study included 428 children, of which 234 had two CF-causing mutations, and were used to compare with the other 194 children with one CF-causing mutation and one isolated 5T allele [CF40mut/(TG)13-5T = 21, CF40mut/(TG)12-5T = 85, and CF40mut/(TG)11-5T = 88]. Among children with CF40mut/(TG)13-5T, 38% were diagnosed with CF by 8 years, based on sweat chloride results and clinical presentation. Six percent of those with CF40mut/(TG)12-5T, and none with CF40mut/(TG)11-5T, reached diagnostic criteria.
conclusionsCFTR (IVS8)-(TG)m-5T allele (TG) tract length determination provides valuable information in predicting the risk of developing a CF phenotype. Of the three types of 5T alleles evaluated, screen-positive children with genotype CF40mut/(TG)13-5T progressed from CRMS to CF at a high rate, while there was little evidence of clinical disease in those with CF40mut/(TG)11-5T. Additional data from longer follow-up intervals are needed to fully understand the natural history of individuals with a CF40mut/(TG)m-5T genotype.
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