Epidemiological and clinical features of «Middle-Urals» variant L138ins in cystic fibr

Shadrina, V.; Krasovsky, S.; Kondratieva, E.; Furman, E. G.

doi:10.14300/mnnc.2020.15069

Cited by 2 publications

(1 citation statement)

References 14 publications

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“…It was shown previously that CFTRdele2,3 variant (hg19::chr7:117138367-117159446del) has Slavic origin with the highest frequency among CF patients of 6.4% in Czechia (5.8% in Russia) [39]. Similarly, it was reported that rs397508686 (CFTR) has a lower frequency worldwide and different frequencies in Russian regions, with the highest ones in the regions of the Middle Ural; up to 3.23% frequency among patients of Ural Federal District was reported in 2019, according to the Russian CF Patients Registry [40,41].…”

Section: Discussionmentioning

confidence: 97%

Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

Sotnikova

Киселева

Куценко

et al. 2022

JPM

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Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss are among the most common autosomal recessive diseases, which require carrier screening. The evaluation of population allele frequencies (AF) of pathogenic variants in genes associated with these conditions and the choice of the best genotyping method are the necessary steps toward development and practical implementation of carrier-screening programs. We performed custom panel genotyping of 3821 unrelated participants from two Russian population representative samples and three patient groups using real-time polymerase chain reaction (PCR) and next generation sequencing (NGS). The custom panel included 115 known pathogenic variants in the CFTR, PAH, SERPINA1, and GJB2 genes. Overall, 38 variants were detected. The comparison of genotyping platforms revealed the following advantages of real-time PCR: relatively low cost, simple genotyping data analysis, and easier detection of large indels, while NGS showed better accuracy of variants identification and capability for detection of additional pathogenic variants in adjacent regions. A total of 23 variants had significant differences in estimated AF comparing with non-Finnish Europeans from gnomAD. This study provides new AF data for variants associated with the studied disorders and the comparison of genotyping methods for carrier screening.

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Section: Discussionmentioning

confidence: 97%

Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

Sotnikova

Киселева

Куценко

et al. 2022

JPM

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The effect of age and genotype on lung function in children with cystic fibrosis

Shadrina

Voronkova

Starinova

et al. 2021

Pulʹmonologiâ (Mosk.)

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Identifying the initial manifestations of pulmonary functional disorders associated with cystic fibrosis (CF) is essential for timely correction of the therapy and improvement of the prognosis.The aim of the study was to identify the age periods with the highest risk of a decrease in lung function in children with different CF genotypes.Methods. Lung function (LF) was analyzed using spirometry results in CF patients aged 6 to 18 years from the Registry of patients with cystic fibrosis in the Russian Federation 2018.Results. The forced expiratory volume in one second (FEV1) was statistically significantly lower in children aged 6 – 10 years with “severe” genotypes than in the children with “mild” genotypes. The lung function was reduced at 11 – 14 years of age in both “severe» and “mild” genotypes without any statistically significant difference. In general, the trend of a decrease in lung function in “severe” genotypes persists in the adolescent period from 15 to 18 years. The lung function is better in adolescents aged 15 – 18 with the “mild” variants of genotypes compared to the patients aged 11 – 14 years.Conclusion. The “severe” variants of CFTR negatively affect LF of CF patients in all age groups. The LF values in patients with “mild” genotypes at the age of 15 – 18 years were higher than in children aged 11 – 14 years with the same genotypes. There is a need for improved programs of medical care for adolescents with CF.

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Epidemiological and clinical features of «Middle-Urals» variant L138ins in cystic fibr

Cited by 2 publications

References 14 publications

Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

The effect of age and genotype on lung function in children with cystic fibrosis

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