Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

Terlizzi, Vito; Castaldo, Giuseppe; Salvatore, Donatello; Lucarelli, Marco; Raia, Valeria; Angioni, Adriano; Carnovale, Vincenzo; Cirilli, N.; Casciaro, R.; Colombo, Carla; Lullo, Antonella Miriam Di; Elce, Ausilia; Iacotucci, Paola; Comegna, Marika; Scorza, Manuela; Lucidi, Vincenzina; Perfetti, Anna; Cimino, Roberta; Quattrucci, Serena; Seia, Manuela; Sofia, Valentina; Zarrilli, Federica; Amato, Felice

doi:10.1136/jmedgenet-2016-103985

Cited by 55 publications

(43 citation statements)

References 47 publications

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“…Lung function test was conducted in all adult patients with a mean forced expiratory volume in 1 second of 107% (range: 78%-131%). We report two other cases of patients with CF carrying (R74W-D1270N-V201M), not described previously, 3 confirming that this complex allele is a mutation-causing allele compared with R74W and D1270N alone. 3 We further emphasize the risk of pathological SC results in 2 (11.1%), 5 (27.7%), and 9 (50.0%) of 18 patients with CF carrying R117H/7 T, 1 D1152H, 4 and haplotypes poly-T with TG-repeats, 1 respectively.…”

Section: E T T E R T O T H E E D I T O Rsupporting

confidence: 82%

Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time?

Terlizzi

Mergni

Centrone

et al. 2020

Pediatric Pulmonology

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Section: E T T E R T O T H E E D I T O Rsupporting

confidence: 82%

Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time?

Terlizzi

Mergni

Centrone

et al. 2020

Pediatric Pulmonology

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“…However, there is a wide clinical heterogeneity in patients with CF . Genetic and environmental factors are involved in the modulation of the severity in each patient. Also the physical activity contributes to modify CF outcome: that is, it improves the health status of patients, their ability to perform activities of daily living and reduces the rate of lung function decline .…”

Section: Introductionmentioning

confidence: 99%

Supervised physical exercise improves clinical, anthropometric and biochemical parameters in adult cystic fibrosis patients: A 2‐year evaluation

Elce¹,

Nigro

Gelzo

et al. 2018

Clinical Respiratory J

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“…Using EGA, a higher number of variants is expected to require confirmation because of an increased detection and the possible technical limitation of NGS. Familial segregation analysis is also essential to confirm compound heterozygosity and to avoid false-positive results due to numerous complex alleles reported in the CFTR gene [46,53,54]. Parents' blood sampling for DNA analysis should therefore be carried out optimally during the first visit so that medical care is not delayed.…”

Section: Sequencing and Bioinformatics Limitations For Variant Detectionmentioning

confidence: 99%

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

Bergougnoux

Lopez

Girodon

2020

IJNS

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There has been considerable progress in the implementation of newborn screening (NBS) programs for cystic fibrosis (CF), with DNA analysis being part of an increasing number of strategies. Thanks to advances in genomic sequencing technologies, CFTR-extended genetic analysis (EGA) by sequencing its coding regions has become affordable and has already been included as part of a limited number of core NBS programs, to the benefit of admixed populations. Based on results analysis of existing programs, the values and challenges of EGA are reviewed in the perspective of its implementation on a larger scale. Sensitivity would be increased at best by using EGA as a second tier, but this could be at the expense of positive predictive value, which improves, however, if EGA is applied after testing a variant panel. The increased detection of babies with an inconclusive diagnosis has proved to be a major drawback in programs using EGA. The lack of knowledge on pathogenicity and penetrance associated with numerous variants hinders the introduction of EGA as a second tier, but EGA with filtering for all known CF variants with full penetrance could be a solution. The issue of incomplete knowledge is a real challenge in terms of the implemention of NBS extended to many genetic diseases.

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Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

Cited by 55 publications

References 47 publications

Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time?

Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time?

Supervised physical exercise improves clinical, anthropometric and biochemical parameters in adult cystic fibrosis patients: A 2‐year evaluation

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

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