New Molecular Diagnosis Approaches — From the Identification of Mutations to their Characterization

Bergougnoux, Anne; Taulan, Magali; Claustres, Mireille; Raynal, Caroline

doi:10.5772/60679

Cited by 3 publications

(9 citation statements)

References 77 publications

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“…The identification of the CF gene has greatly enhanced the understanding of CF's molecular mechanisms and introduced a novel diagnostic approach. Over 2000 mutations have been identified thus far, with approximately 83% linked to clinical CF, while around 200 are classified as polymorphisms, indicating their non-disease-causing nature, thus complicating molecular diagnostics [12,44,46,69,80,84,97,98].…”

Section: A Mutation Types and Their Association With Disease Severitymentioning

confidence: 99%

“…Genetic mutation analysis is crucial for confirming abnormal neonatal screening or sweat test results, identifying carriers, and conducting prenatal testing for carrier couples. However, this method can only detect a limited number of mutations [12,44,46,69,80,84,97,98]. Given that CFTR mutation frequency and distribution vary among populations, genetic testing should be tailored to each population's variant frequency, thereby improving mutation detection rates [37,38].…”

Section: A Mutation Types and Their Association With Disease Severitymentioning

confidence: 99%

“…In Romania, for instance, only 38 mutations can be detected. The F508del mutation is prevalent in 70% of European CF patients, with 49% being homozygous and 42% compound heterozygous [97]. Other mutations are rarer and depend on geographical and cultural factors [101].…”

Section: A Mutation Types and Their Association With Disease Severitymentioning

confidence: 99%

“…Various mutation types have been identified, including missense, frameshift, splice site, nonsense, and deletions, with CFTR mutations classified into six groups based on their molecular and functional defects: Refs. [1,12,46,65,97,98,102,103]. Mutations may affect CFTR quantitatively, qualitatively, or both [69].…”

Section: A Mutation Types and Their Association With Disease Severitymentioning

confidence: 99%

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Diagnosing Cystic Fibrosis in the 21st Century—A Complex and Challenging Task

Anton-Păduraru,

Azoicăi,

Trofin

et al. 2024

Diagnostics

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Cystic fibrosis (CF) is a chronic and potentially life-threatening condition, wherein timely diagnosis assumes paramount significance for the prompt initiation of therapeutic interventions, thereby ameliorating pulmonary function, addressing nutritional deficits, averting complications, mitigating morbidity, and ultimately enhancing the quality of life and extending longevity. This review aims to amalgamate existing knowledge to provide a comprehensive appraisal of contemporary diagnostic modalities pertinent to CF in the 21st century. Deliberations encompass discrete delineations of each diagnostic modality and the elucidation of potential diagnostic quandaries encountered in select instances, as well as the delineation of genotype–phenotype correlations germane to genetic counseling endeavors. The synthesis underscores that, notwithstanding the availability and strides in diagnostic methodologies, including genetic assays, the sweat test (ST) retains its position as the preeminent diagnostic standard for CF, serving as a robust surrogate for CFTR functionality. Prospective clinical investigations in the realm of CF should be orchestrated with the objective of discerning novel diagnostic modalities endowed with heightened specificity and sensitivity.

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Section: A Mutation Types and Their Association With Disease Severitymentioning

confidence: 99%

Section: A Mutation Types and Their Association With Disease Severitymentioning

confidence: 99%

Section: A Mutation Types and Their Association With Disease Severitymentioning

confidence: 99%

Section: A Mutation Types and Their Association With Disease Severitymentioning

confidence: 99%

See 2 more Smart Citations

Diagnosing Cystic Fibrosis in the 21st Century—A Complex and Challenging Task

Anton-Păduraru,

Azoicăi,

Trofin

et al. 2024

Diagnostics

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“…To complete variants’ annotations, we then applied another classification method developed in the laboratory to assess the impact of variants on splicing (Baux, Vaché, Malcolm, Claustres, & Roux, ; Bergougnoux, Taulan‐Cadars, Claustres, & Raynal, ; Raynal et al. ).…”

Section: Assessment Of Pathogenicity and Disease Liability Of Rare Vamentioning

confidence: 99%

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants

et al. 2017

Self Cite

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Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and genetic counseling challenging. We developed a patient-based database dedicated to the annotations of rare CFTR variants in the context of their cis- and trans-allelic combinations. Based on almost 30 years of experience of CFTR testing, CFTR-France (https://cftr.iurc.montp.inserm.fr/cftr) currently compiles 16,819 variant records from 4,615 individuals with cystic fibrosis (CF) or CFTR-RD (related disorders), fetuses with ultrasound bowel anomalies, newborns awaiting clinical diagnosis, and asymptomatic compound heterozygotes. For each of the 736 different variants reported in the database, patient characteristics and genetic information (other variations in cis or in trans) have been thoroughly checked by a dedicated curator. Combining updated clinical, epidemiological, in silico, or in vitro functional data helps to the interpretation of unclassified and the reassessment of misclassified variants. This comprehensive CFTR database is now an invaluable tool for diagnostic laboratories gathering information on rare variants, especially in the context of genetic counseling, prenatal and preimplantation genetic diagnosis. CFTR-France is thus highly complementary to the international database CFTR2 focused so far on the most common CF-causing alleles.

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Current and future molecular approaches in the diagnosis of cystic fibrosis

Bergougnoux

Taulan

Claustres

et al. 2018

Expert Review of Respiratory Medicine

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Cystic Fibrosis is among the first diseases to have general population genetic screening tests and one of the most common indications of prenatal and preimplantation genetic diagnosis for single gene disorders. During the past twenty years, thanks to the evolution of diagnostic techniques, our knowledge of CFTR genetics and pathophysiological mechanisms involved in cystic fibrosis has significantly improved. Areas covered: Sanger sequencing and quantitative methods greatly contributed to the identification of more than 2,000 sequence variations reported worldwide in the CFTR gene. We are now entering a new technological age with the generalization of high throughput approaches such as Next Generation Sequencing and Droplet Digital PCR technologies in diagnostics laboratories. These powerful technologies open up new perspectives for scanning the entire CFTR locus, exploring modifier factors that possibly influence the clinical evolution of patients, and for preimplantation and prenatal diagnosis. Expert commentary: Such breakthroughs would, however, require powerful bioinformatics tools and relevant functional tests of variants for analysis and interpretation of the resulting data. Ultimately, an optimal use of all those resources may improve patient care and therapeutic decision-making.

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New Molecular Diagnosis Approaches — From the Identification of Mutations to their Characterization

Cited by 3 publications

References 77 publications

Diagnosing Cystic Fibrosis in the 21st Century—A Complex and Challenging Task

Diagnosing Cystic Fibrosis in the 21st Century—A Complex and Challenging Task

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants

Current and future molecular approaches in the diagnosis of cystic fibrosis

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