Comprehensive semen examination in patients with pancreatic-sufficient and pancreatic-insufficient cystic fibrosis

A, Sedová; Shtaut, M. I.; Брагина, Е. Е.; Сорокина, Т. М.; Shmarina, Galina; Andreeva, Marina V; Курило, Л. Ф.; Krasovskiy, S.; Polyakov, A. V.; Черных, В. Б.

doi:10.4103/aja2022115

Cited by 2 publications

(2 citation statements)

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“…In our recent study of a cohort of adult Russian men diagnosed with CF, we found four patients who were compound heterozygotes for the L138ins variant (F508del/L138ins, n = 3; 2184insA/L138ins, n = 1) [7]. All patients developed pancreas sufficient CF (PS-CF) and obstructive azoospermia due to congenital bilateral aplasia of vas deferens.…”

Section: Discussionmentioning

confidence: 97%

“…Genes 2023, 14, 1407 2 of 10 Commonly, the frequency of CFTR gene variants has been found to be higher in infertile male patients compared to the general population, including Russian men with impaired fertility without diagnosed CF [5,6]. This is mainly due to Congenital Bilateral Aplasia of Vas Deferens (CBAVD, OMIM: 277180), which is characterized by obstructive azoospermia [2,7]. This excretory form of male infertility can be associated with CF or can be isolated (CBAVD syndrome) [2][3][4].…”

Section: Introductionmentioning

confidence: 99%

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L138ins Variant of the CFTR Gene in Russian Infertile Men

Черных

Sorokina

et al. 2023

Genes

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(1) Introduction: Pathogenic variants in the CFTR (Cystic Fibrosis Transmembrane conductance Regulator, OMIM: 602421) gene cause Cystic Fibrosis (CF, OMIM: 219700) and CF-related disorders (CF-RD), often accompanied by obstructive azoospermia due to congenital bilateral aplasia of vas deferens (CBAVD, OMIM: 277180) in male patients. The L138ins (c.413_415dup; p. (Leu138dup)) is a mild variant in the CFTR gene that is relatively common among CF-patients in Slavic populations. The frequency of this variant in Russian infertile men has not been sufficiently studied; (2) Materials and Methods: The sample consisted of 6033 Russian infertile men. The patients were tested for 22 common in Russian populations pathogenic variants of the CFTR gene and the IVS9Tn-polymorphic locus of the intron 9. Molecular-genetic studies were performed using amplified fragment length polymorphism (AFLP-PCR), multiplex ligation-dependent probe amplification (MLPA), and nested PCR (for analysis of the IVS9Tn-polymorphic locus); (3) Results: Pathogenic variants in the CFTR were detected in 3.9% of patients. The most frequent variants were F508del and CFTRdele2.3(21kb), accounted for 61.0% and 7.1% of detected variants, respectively. The L138ins variant was detected in 17 (0.28%) individuals: one of them was homozygous, 10 patients were heterozygous, and 6 patients were compound-heterozygous (F508del/L138ins, n = 4; L138ins/N1303K, n = 1; L138ins/5T, n = 1). Two pathogenic CF-causing variants in the CFTR gene were detected in 8 patients, including 7 compound heterozygous (F508del/L138ins, n = 4; F508del/N1303K, n = 1; 2184insA/E92K, n = 1; 3849+10kbC>T/E92K, n = 1) and one homozygous (L138ins/L138ins). The L138ins variant was found in 7 out of 16 (43.75%) chromosomes in six of these patients. The most common pathogenic variant, F508del, was identified in five out of them, in 5 of 16 (31.25%) chromosomes. The allele frequency (AF) of the L138ins variant in the sample has been found to be 0.0014.; (4) Conclusions: The L138ins variant of the CFTR gene is the third most common variant after F508del and CFTRdele2.3(kb) among Russian infertile men.

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Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

L138ins Variant of the CFTR Gene in Russian Infertile Men

Черных

Sorokina

et al. 2023

Genes

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Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia)

Ayupova,

Litvinov,

Akhmetova

et al. 2024

Genes

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Background/Objectives: Cystic fibrosis (CF) is one of the most common autosomal-recessive disorders worldwide. The incidence of CF depends on the prevalence of cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations in the population, which is determined by genetic diversity and ethnicity. Methods: The search for the causes of mutations in the transmembrane conductance regulator gene (CFTR) was carried out using targeted next-generation sequencing (NGS) on the Illumina platform in patients with cystic fibrosis from the Republic of Bashkortostan (Russia), taking into account the ethnic structure of the sample. Results: A total of 35 distinct causal variants were found in 139 cases from 129 families. Five (F508del, E92K, 3849+10kbC>T, CFTRdele2.3, L138ins) explain 78.7% of identified CF causal alleles. Variants N13103K and 394delTT were found in four families each. Variants 2143delT, S1196X, W1282X, Y84X, G194R, and 1525-1G>A, as well as the two previously described complex alleles—c. [S466X; R1070Q] and str.[G509D;E217G]—were found in two or three families each. Twenty additional variants occurred only once. Variant c.3883_3888dup has not been described previously. Thus, regional and ethnic features were identified in the spectrum of frequencies of pathogenic variants of the CFTR gene in the three major sub-groups of patients—Russians, Tatars, and Bashkirs. Conclusions: Taking into account these results, highlighting the genetic specificity of the region, a more efficient search for CFTR mutations in patients can be performed. In particular it is possible to choose certain test kits for quick and effective genetic screening before use of NGS sequencing.

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Comprehensive semen examination in patients with pancreatic-sufficient and pancreatic-insufficient cystic fibrosis

Cited by 2 publications

References 28 publications

L138ins Variant of the CFTR Gene in Russian Infertile Men

L138ins Variant of the CFTR Gene in Russian Infertile Men

Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia)

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