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  • 1
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    L138ins Variant of the CFTR Gene in Russian Infertile Men
    MDPI AG ; 2023
    In:  Genes Vol. 14, No. 7 ( 2023-07-07), p. 1407-
    Details
    In: Genes, MDPI AG, Vol. 14, No. 7 ( 2023-07-07), p. 1407-
    Abstract: (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.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    URL: Article
    DOI: 10.3390/genes14071407
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2527218-4
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  • 2
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    Genetic and Clinical Spectrum of GNE Myopathy in Russia
    MDPI AG ; 2022
    In:  Genes Vol. 13, No. 11 ( 2022-10-31), p. 1991-
    Details
    In: Genes, MDPI AG, Vol. 13, No. 11 ( 2022-10-31), p. 1991-
    Abstract: GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the GNE gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spectrum and clinical data. In our cohort, 10 novel variants were found, including 2 frameshift variants and 2 large deletions. One novel missense variant c.169_170delGCinsTT (p.(Ala57Phe)) was detected in 4 families in a homozygous state and in 3 unrelated patients in a compound heterozygous state. It was the second most frequent variant in our cohort. All families with this novel frequent variant were non-consanguineous and originated from the 3 neighboring areas in the European part of Russia. The clinical picture of the patients carrying this novel variant was typical, but the severity of clinical manifestation differed significantly. In our study, we reported two atypical cases expanding the phenotypic spectrum of GNEM. One female patient had severe quadriceps atrophy, hand joint contractures, keloid scars, and non-classical pattern on leg muscle magnetic resonance imaging, which was more similar to atypical collagenopathy rather than GNEM. Another patient initially had been observed with spinal muscular atrophy due to asymmetric atrophy of hand muscles and results of electromyography. The peculiar pattern of muscle involvement on magnetic resonance imaging consisted of pronounced changes in the posterior thigh muscle group with relatively spared muscles of the lower legs, apart from the soleus muscles. Different variants in the GNE gene were found in both atypical cases. Thus, our data expand the mutational and clinical spectrum of GNEM.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    URL: Article
    DOI: 10.3390/genes13111991
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2527218-4
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  • 3
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    Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
    MDPI AG ; 2022
    In:  International Journal of Molecular Sciences Vol. 23, No. 14 ( 2022-07-14), p. 7764-
    Details
    In: International Journal of Molecular Sciences, MDPI AG, Vol. 23, No. 14 ( 2022-07-14), p. 7764-
    Abstract: Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients with non-specific IDD, for whom it is impossible to establish a clinical diagnosis without complex genetic diagnostics. We examined 198 patients with non-specific IDD from 171 families using whole-exome sequencing and chromosome microarray analysis. Hereditary forms of IDD account for at least 35.7% of non-specific IDD, of which 26.9% are monogenic forms. Variants in the genes associated with the BAF (SWI/SNF) complex were the most frequently identified. We were unable to identify phenotypic features that would allow differential diagnosis of monogenic and microstructural chromosomal rearrangements in non-specific IDD at the stage of clinical examination, but due to its higher efficiency, exome sequencing should be the diagnostic method of the highest priority study after the standard examination of patients with NIDD in Russia.
    Type of Medium: Online Resource
    ISSN: 1422-0067
    URL: Article
    DOI: 10.3390/ijms23147764
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2019364-6
    SSG: 12
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  • 4
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    Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases
    MDPI AG ; 2022
    In:  International Journal of Molecular Sciences Vol. 23, No. 17 ( 2022-08-24), p. 9576-
    Details
    In: International Journal of Molecular Sciences, MDPI AG, Vol. 23, No. 17 ( 2022-08-24), p. 9576-
    Abstract: Palmoplantar keratoderma is a clinically polymorphic disorder with a heterogeneous etiology characterized by marked hyperkeratotic lesions on the surface of palms and soles. Hereditary forms of palmoplantar keratoderma usually have autosomal dominant inheritance and are caused by mutations in dozens of genes, most of which belong to the keratin family. We carried out clinical and molecular genetic analysis of the affected and healthy members of four families with autosomal dominant palmoplantar keratoderma. In three out of four family cases of autosomal dominant palmoplantar keratoderma, the following molecular genetic causes were established: in two families—previously non-described missense mutations in the AQP5 gene (NM_001651.4): c.369C 〉 G (p.(Asn123Lys)) and c.103T 〉 G (p.(Trp35Gly)); in one family—a described splice site mutation in the KRT9 gene (NM_000226.4): c.31T 〉 G. In one family, the possible cause of palmoplantar keratoderma was detected—a variant in the KRT1 gene (NM_006121.4): c.931G 〉 A (p.(Glu311Lys)).
    Type of Medium: Online Resource
    ISSN: 1422-0067
    URL: Article
    DOI: 10.3390/ijms23179576
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2019364-6
    SSG: 12
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  • 5
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    Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
    Informa UK Limited ; 2022
    In:  The Application of Clinical Genetics Vol. Volume 15 ( 2022-01), p. 1-10
    Details
    In: The Application of Clinical Genetics, Informa UK Limited, Vol. Volume 15 ( 2022-01), p. 1-10
    Type of Medium: Online Resource
    ISSN: 1178-704X
    URL: Article
    DOI: 10.2147/TACG.S342804
    Language: English
    Publisher: Informa UK Limited
    Publication Date: 2022
    detail.hit.zdb_id: 2472464-6
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  • 6
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    Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation
    MDPI AG ; 2023
    In:  International Journal of Molecular Sciences Vol. 24, No. 8 ( 2023-04-18), p. 7449-
    Details
    In: International Journal of Molecular Sciences, MDPI AG, Vol. 24, No. 8 ( 2023-04-18), p. 7449-
    Abstract: The congenital disorder of glycosylation type IIs (ATP6AP1-CDG; OMIM# 300972) is a rare X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Here, we examine the case of a 1-year-old male patient of Buryat origin, who presented with liver dysfunction. At the age of 3 months, he was hospitalized with jaundice and hepatosplenomegaly. Whole-exome sequencing identified the ATP6AP1 gene missense variant NM_001183.6:c.938A 〉 G (p.Tyr313Cys) in the hemizygous state, which was previously reported in a patient with immunodeficiency type 47. At the age of 10 months, the patient successfully underwent orthotopic liver transplantation. After the transplantation, the use of Tacrolimus entailed severe adverse effect (colitis with perforation). Replacing Tacrolimus with Everolimus led to improvement. Previously reported patients demonstrated abnormal N- and O-glycosylation, but these data were collected without any specific treatment. In contrast, in our patient, isoelectric focusing (IEF) of serum transferrin was performed only after the liver transplant and showed a normal IEF pattern. Thus, liver transplantation could be a curative option for patients with ATP6AP1-CDG.
    Type of Medium: Online Resource
    ISSN: 1422-0067
    URL: Article
    DOI: 10.3390/ijms24087449
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2019364-6
    SSG: 12
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  • 7
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    Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI
    Elsevier BV ; 2023
    In:  Stem Cell Research Vol. 73 ( 2023-12), p. 103259-
    Details
    In: Stem Cell Research, Elsevier BV, Vol. 73 ( 2023-12), p. 103259-
    Type of Medium: Online Resource
    ISSN: 1873-5061
    URL: Article
    DOI: 10.1016/j.scr.2023.103259
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2023
    detail.hit.zdb_id: 2393143-7
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  • 8
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    A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene
    Research Center of Neurology ; 2021
    In:  Annals of Clinical and Experimental Neurology Vol. 15, No. 3 ( 2021-10-04), p. 85-91
    Details
    In: Annals of Clinical and Experimental Neurology, Research Center of Neurology, Vol. 15, No. 3 ( 2021-10-04), p. 85-91
    Abstract: Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600). An autosomal dominant form of LGMD (OMIM 618129) caused by c.643_663del heterozygous mutation in the CAPN3 gene is also supposed to exist. This article describes a family case of LGMD caused by mutations in the CAPN3 gene with pseudodominant inheritance. Materials and methods. Two patients with LGMD were studied: a 59-year-old woman and her 38-year-old daughter. Clinical, genealogical and molecular genetics methods were used: limb girdle muscular dystrophy MPS panel, Sanger sequencing of DNA of the proband, her affected daughter, and six first- and second-degree relatives across four generations. Results. It was found that identical variants of the nucleotide sequence, c.598_612del and c.1746-20CG, identified in the CAPN3 gene of the proband and her daughter, are in the trans position (compound heterozygous state), causing autosomal recessive calpain-3-related LGMD. This is an example of an incredibly rare pseudodominant inheritance of an autosomal recessive disease, established through indirect evidence that the probands husband is a heterozygous carrier of a nucleotide substitution in the CAPN3 gene. Conclusion. It is crucial to examine the marriage partner for heterozygous carrier status of a gene mutation responsible for the disease in family planning and when clarifying the childs prognosis for a patient with an autosomal recessive disease. Considering the existence of a late-onset (after 30 years) LGMD phenotype associated with the CAPN3 gene, differential diagnosis should begin with testing this gene in families with late disease onset.
    Type of Medium: Online Resource
    ISSN: 2409-2533 , 2075-5473
    URL: Article
    DOI: 10.54101/ACEN.2021.3.10
    Language: Unknown
    Publisher: Research Center of Neurology
    Publication Date: 2021
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  • 9
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    Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
    Springer Science and Business Media LLC ; 2020
    In:  BMC Medical Genetics Vol. 21, No. S1 ( 2020-10)
    Details
    In: BMC Medical Genetics, Springer Science and Business Media LLC, Vol. 21, No. S1 ( 2020-10)
    Abstract: Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen disease) and recessive form (Becker disease) and both are caused by pathogenic variants in the CLCN1 gene. Noncanonical splice site variants are often classified as variants of uncertain significance, due to insufficient accuracy of splice-predicting tools. Functional analysis using minigene plasmids is widely used in such cases. Moreover, functional analysis is very useful in investigation of the disease pathogenesis, which is necessary for development of future therapeutic approaches. To our knowledge only one noncanonical splice site variant in the CLCN1 gene was functionally characterized to date. We further contribute to this field by evaluation the molecular mechanism of splicing alteration caused by the c.1582 + 5G  〉  A in a homozygous state. Case presentation We report a clinical case of an affected 6-y.o boy with athletic appearance due to muscle hypertrophy, calf muscle stiffness, cramping and various myotonic signs in a consanguineous family with no history of neuromuscular disorders. The neurological examination showed percussion-activated myotonia in the hands and legs. Plasma creatine kinase enzyme and transaminases levels were normal. Electromyography at the time of examination shows myotonic runs in the upper and lower extremities. Conclusions Functional analysis of the variant in a minigene system showed alteration of splicing leading to loss of function, thereby confirming that the variant is pathogenic.
    Type of Medium: Online Resource
    ISSN: 1471-2350
    URL: Article
    DOI: 10.1186/s12881-020-01128-5
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2020
    detail.hit.zdb_id: 2041359-2
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  • 10
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    A corpus study of English “nautical” idioms
    Tambov State University - G.R. Derzhavin ; 2021
    In:  Neophilology , No. 28 ( 2021), p. 636-644
    Details
    In: Neophilology, Tambov State University - G.R. Derzhavin, , No. 28 ( 2021), p. 636-644
    Abstract: We attempt to study nautical history influence on the phraseology of contemporary English. Britain’s geographical location and consequently its dependence on the surrounding seas greatly affected the language of all English-speaking countries. On the basis of criteria defined by J. Swales and ideas of W. Teubert, we identify the English-speaking discourse community of sea-farers. The assessment of historical and social conditions made it possible to determine the causes and the impact of the highly specialized language of this discourse community on the entire Eng-lish language. Following the study of two main approaches when working with language corpora (corpus-based and corpus-driven), we conducts corpus-driven research relying totally on the data obtained from the corpus. Using the material from the English language corpus NOW (News on the Web), we study the context and extent of distribution of seven phraseological units with com-ponents with the semantics of navigation in two main variants of the English language: British and American. The data obtained showed partial grammatical and syntactic discrepancies, as well as acceptable variations in the lexical structure of some units. The study of original nautical meanings allows us to understand the metaphorical mapping underlying the sense of the idioms.
    Type of Medium: Online Resource
    ISSN: 2587-6953
    Uniform Title: Корпусное исследование «морских» идиом английского языка
    URL: Issue
    URL: Journal
    URL: Article
    DOI: 10.20310/2587-6953-2021-7-28
    DOI: 10.20310/2587-6953
    DOI: 10.20310/2587-6953-2021-7-28-636-644
    Language: Unknown
    Publisher: Tambov State University - G.R. Derzhavin
    Publication Date: 2021
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