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State-of-the-Art Molecular Genetics and Genomics in Poland

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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (15 February 2023) | Viewed by 37385

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Prof. Dr. Anna Cieslinska

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Department of Biology and Biotechnology, University of Warmia and Mazury, 10-719 Olsztyn, Poland
Interests: genetics; biochemistry; biotechnology; molecular biology; diets; SNPs; mutations; opioids; proteins
Special Issues, Collections and Topics in MDPI journals

Dr. Ewa Fiedorowicz

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Department of Biochemistry, Faculty of Biology and Biotechnology, University of Warmia and Mazury, Oczapowskiego 1A Street, 10-719 Olsztyn, Poland
Interests: molecular biology; biochemistry; food allergy; milk allergy; allergy; allergen; ELISA; serotonin; opioid peptides; cell culture; hypersensitivity; cytokines
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue aims to provide a comprehensive overview of recent advances in molecular genetics and genomes in Poland by inviting contributions from Polish research institutes/laboratories that consolidate our understanding of this area.

Research articles and reviews are sought that provide insight into any aspect of molecular genetics and genomes in Poland. Topics include but are not limited to:

Gene regulation, chromatin, and epigenetics;
Genome integrity, repair, and replication;
Genetic polymorphism;
Microbial genetics;
Plant genetic and genomic studies;
Sex differences;
Genes or genomes related to phenotypes and human physiopathology;
Cancer genetics and epigenetics;
Pharmacogenetics and pharmacogenomics;
Toxicogenomics, nutrigenomics and neurogenomics, etc.;
Technological and analytical developments of genomic data;
Functional genomics.

Dr. Anna Cieślińska
Dr. Ewa Fiedorowicz
Guest Editors

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Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

RNA
DNA
DNA structure, damage, and repair
post-translational modifications
autophagy
cell cycle
gene expression, functions and therapy
mutation
nuclear organization
polymerase
nucleic acid–protein interactions
molecular clone
sequencing analysis
epigenetics
transcriptomics
genetics of aging
genetic disorders, SNP, etc

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State-of-the-Art Molecular Genetics and Genomics in Poland: 3rd Edition in International Journal of Molecular Sciences

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16 pages, 2511 KiB

Open AccessArticle

Prognostic Potential of Nectin Expressions in Colorectal Cancer: An Exploratory Study

by Jakub Kobecki, Paweł Gajdzis, Grzegorz Mazur and Mariusz Chabowski

Int. J. Mol. Sci. 2023, 24(21), 15900; https://doi.org/10.3390/ijms242115900 - 2 Nov 2023

Cited by 3 | Viewed by 2342

Abstract

Colorectal cancer (CRC) is a pressing global health challenge, with an estimated 1.9 million new cases in 2020. Ranking as the third most diagnosed cancer globally, CRC accounts for nearly 930,000 cancer-related deaths annually. Nectins, immunoglobulin-like adhesion molecules, are pivotal in intercellular adhesion formation and cellular function regulation. Altered nectin expression patterns have been identified in various cancers. However, the intricacies of their role in cancer development and progression remain underexplored. This study aimed to evaluate the expression of specific nectins in CRC tumors, explore their association with clinicopathological factors, and ascertain their potential as prognostic indicators for CRC patients post-resection. We retrospectively analyzed the medical records of 92 CRC patients who underwent surgical treatment between 2013 and 2014. Tumor specimens were re-evaluated to determine nectin expression using immunohistochemistry. The study identified heterogeneous expressions of nectin-2, -3, and -4 in 58%, 62.6%, and 87.9% of specimens, respectively. Elevated nectin-4 expression correlated with worse 5-year and overall survival rates, presenting a negative prognostic value (HR = 4, 95% CI: 2.4–6.8, p < 0.001). Conversely, reduced nectin-3 expression was linked to poorer CRC prognosis (HR = 0.54; 95% CI: 0.31–0.96; p = 0.036). Nectin-4 expression positively correlated with elevated carcinoembryonic antigen (CEA) levels and advanced disease stages. In contrast, nectin-3 expression negatively correlated with CEA levels, tumor size, presence of distant metastases, and disease stage. Notably, tumors in the right colon were statistically more likely to express nectin-2 compared to those in the left. This study underscores the potential prognostic significance of nectins in CRC. The high prevalence of nectin-4-expressing cells offers promising avenues for further evaluation in targeted therapeutic interventions with already available agents such as PADCEV. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

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10 pages, 283 KiB

Open AccessArticle

SNP in PTPN22, PADI4, and STAT4 but Not TRAF1 and CD40 Increase the Risk of Rheumatoid Arthritis in Polish Population

by Tomasz Budlewski, Joanna Sarnik, Grzegorz Galita, Grzegorz Dragan, Olga Brzezińska, Marta Popławska, Tomasz Popławski and Joanna Makowska

Int. J. Mol. Sci. 2023, 24(8), 7586; https://doi.org/10.3390/ijms24087586 - 20 Apr 2023

Cited by 6 | Viewed by 2308

Abstract

Single nucleotide polymorphisms in non-HLA genes are involved in the development of rheumatoid arthritis (RA). SNPS in genes: PADI4 (rs2240340), STAT4 (rs7574865), CD40 (rs4810485), PTPN22 (rs2476601), and TRAF1 (rs3761847) have been described as risk factors for the development of autoimmune diseases, including RA. This study aimed to assess the prevalence of polymorphisms of these genes in the Polish population of patients with rheumatoid arthritis as compared to healthy controls. 324 subjects were included in the study: 153 healthy subjects and 181 patients from the Department of Rheumatology, Medical University of Lodz who fulfilled the criteria of rheumatoid arthritis diagnosis. Genotypes were determined by Taqman SNP Genotyping Assay. rs2476601 (G/A, OR = 2.16, CI = 1.27–3.66; A/A, OR = 10.35, CI = 1.27–84.21), rs2240340 (C/T, OR = 4.35, CI = 2.55–7.42; T/T, OR = 2.80, CI = 1.43–4.10) and rs7574865 (G/T, OR = 1.97, CI = 1.21–3.21; T/T, OR = 3.33, CI = 1.01–11.02) were associated with RA in the Polish population. Rs4810485 was also associated with RA, however after Bonferroni’s correction was statistically insignificant. We also found an association between minor alleles of rs2476601, rs2240340, and rs7574865 and RA (OR = 2.32, CI = 1.47–3.66; OR = 2.335, CI = 1.64–3.31; OR = 1.88, CI = 1.27–2.79, respectively). Multilocus analysis revealed an association between CGGGT and rare (below 0.02 frequency) haplotypes (OR = 12.28, CI = 2.65–56.91; OR = 3.23, CI = 1.63–6.39). In the Polish population, polymorphisms of the PADI4, PTPN22, and STAT4 genes have been detected, which are also known risk factors for RA in various other populations. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

13 pages, 268 KiB

Open AccessArticle

Polymorphisms in DNA Repair Genes and Association with Rheumatoid Arthritis in a Pilot Study on a Central European Population

by Grzegorz Galita, Joanna Sarnik, Olga Brzezinska, Tomasz Budlewski, Grzegorz Dragan, Marta Poplawska, Ireneusz Majsterek, Tomasz Poplawski and Joanna S. Makowska

Int. J. Mol. Sci. 2023, 24(4), 3804; https://doi.org/10.3390/ijms24043804 - 14 Feb 2023

Cited by 4 | Viewed by 2162

Abstract

Rheumatoid arthritis (RA) is a chronic, multifactorial autoimmune disease characterized by chronic arthritis, a tendency to develop joint deformities, and involvement of extra-articular tissues. The risk of malignant neoplasms among patients with RA is the subject of ongoing research due to the autoimmune pathogenesis that underlies RA, the common etiology of rheumatic disease and malignancies, and the use of immunomodulatory therapy, which can alter immune system function and thus increase the risk of malignant neoplasms. This risk can also be increased by impaired DNA repair efficiency in individuals with RA, as reported in our recent study. Impaired DNA repair may reflect the variability in the genes that encode DNA repair proteins. The aim of our study was to evaluate the genetic variation in RA within the genes of the DNA damage repair system through base excision repair (BER), nucleotide excision repair (NER), and the double strand break repair system by homologous recombination (HR) and non-homologous end joining (NHEJ). We genotyped a total of 28 polymorphisms in 19 genes encoding DNA repair-related proteins in 100 age- and sex-matched RA patients and healthy subjects from Central Europe (Poland). Polymorphism genotypes were determined using the Taq-man SNP Genotyping Assay. We found an association between the RA occurrence and rs25487/XRCC1, rs7180135/RAD51, rs1801321/RAD51, rs963917/RAD51B, rs963918/RAD51B, rs2735383/NBS1, rs132774/XRCC6, rs207906/XRCC5, and rs861539/XRCC3 polymorphisms. Our results suggest that polymorphisms of DNA damage repair genes may play a role in RA pathogenesis and may be considered as potential markers of RA. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

17 pages, 5321 KiB

Open AccessArticle

Prognostic Value of the miR-17~92 Cluster in Chronic Lymphocytic Leukemia

by Sylwia Chocholska, Michał Zarobkiewicz, Agata Szymańska, Natalia Lehman, Justyna Woś and Agnieszka Bojarska-Junak

Int. J. Mol. Sci. 2023, 24(2), 1705; https://doi.org/10.3390/ijms24021705 - 15 Jan 2023

Cited by 9 | Viewed by 2056

Abstract

The aim of this study was to investigate the expression of miR-17∼92 cluster members in chronic lymphocytic leukemia (CLL) patients. Six microRNAs (miRNAs)—miR-17, miR-18a, miR-19a, miR-19b-1, miR-20a, and miR-92a-1—very poorly characterized in CLL patients, were chosen for the study to consider their possible role as cancer biomarkers. It is currently unclear to which extent miR-17~92 expression is related to other routinely measured CLL markers, and whether the findings can be of any clinical significance. To achieve this goal, we report the expression levels of these miRNAs detected by RT-qPCR in purified CD19+ B lymphocytes of 107 CLL patients and correlate them with existing clinical data. The study provides new evidence regarding the heterogeneity of miR-17~92 cluster members’ expression in CLL patients. Higher miR-17-5p expression was associated with unfavorable prognostic factors (i.e., 17p and 11q deletions, CD38 and ZAP-70 expression). On the other hand, miR-19a, miR-20a, and miR-92a-1 negatively correlated with these adverse factors. The presence of del(13q) as a sole aberration was associated with a significantly lower miR-17-5p as well as higher miR-19a-3p and miR-92a-1-5p expression compared to patients carrying unfavorable genetic aberrations. Particularly, miR-20a could be considered an independent favorable prognostic factor. In a multivariate analysis, high miR-20a expression remained an independent marker predicting long TTT (time to treatment) for CLL patients. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

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11 pages, 280 KiB

Open AccessArticle

Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series

by Agnieszka Charzewska, Iwona Terczyńska, Agata Lipiec, Tomasz Mazurczak, Paulina Górka-Skoczylas, Róża Szlendak, Karolina Kanabus, Renata Tataj, Mateusz Dawidziuk, Bartosz Wojtaś, Bartłomiej Gielniewski, Jerzy Bal, Elżbieta Stawicka and Dorota Hoffman-Zacharska

Int. J. Mol. Sci. 2023, 24(2), 1117; https://doi.org/10.3390/ijms24021117 - 6 Jan 2023

Cited by 2 | Viewed by 2204

Abstract

Studies conducted on large populations show a lack of connection between vaccination and serious neurological symptoms. However, there are isolated cases that indicate such a relationship. These reports on adverse effects following immunization (AEFI) reduce social confidence in vaccination; however, their background may be rare genetic defects. The aim of the presented study was to examine if neurological AEFI in children may be associated with variants in genes related to neurodevelopment. To identify such possible associations, a descriptive study of the Polish case series was conducted. We performed next-generation sequencing in patients who, up to 4 weeks of injection of any vaccine, manifested neurological AEFI. We included 23 previously normally developing children with first seizures that occurred after vaccination. We identified pathogenic/likely pathogenic variants in genes engaged in neurodevelopment in nine patients and variants of uncertain significance in another nine patients. The mutated genes belonged to the group of genes related to epilepsy syndromes/epileptic encephalopathy. We showed that AEFI might have a genetic background. We hypothesized that in some AEFI patients, the vaccine might only trigger neurological symptoms that would have been manifested anyway as a result of a pathogenic variant in a gene engaged in neurodevelopment. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

15 pages, 810 KiB

Open AccessArticle

The Effect of the BCO2 Genotype on the Expression of Genes Related to Carotenoid, Retinol, and α-Tocopherol Metabolism in Rabbits Fed a Diet with Aztec Marigold Flower Extract

by Janusz Strychalski, Andrzej Gugołek, Zofia Antoszkiewicz, Dorota Fopp-Bayat, Edyta Kaczorek-Łukowska, Anna Snarska, Grzegorz Zwierzchowski, Angelika Król-Grzymała and Paulius Matusevičius

Int. J. Mol. Sci. 2022, 23(18), 10552; https://doi.org/10.3390/ijms231810552 - 11 Sep 2022

Cited by 7 | Viewed by 1932

Abstract

This study investigated the effect of the BCO2 genotype and the addition of Aztec marigold flower extract to rabbit diets on the expression of BCO1, BCO2, LRAT, and TTPA genes in the liver. The levels of lutein, zeaxanthin, β-carotene, retinol, and α-tocopherol in the liver and blood serum of rabbits, as well as plasma biochemical parameters and serum antioxidant enzyme activities were also determined. Sixty male Termond White growing rabbits were divided into three groups based on their genotype at codon 248 of the BCO2 gene (ins/ins, ins/del and del/del); each group was divided into two subgroups: one subgroup received a standard diet, and the other subgroup was fed a diet supplemented with 6 g/kg of marigold flower extract. The obtained results indicate that the BCO2 genotype may affect the expression levels of BCO1 and BCO2 genes in rabbits. Moreover, the addition of marigold extract to the diet of BCO2 del/del rabbits may increase the expression level of the BCO2 gene. Finally, an increase in the amount of lutein in the diet of rabbits with the BCO2 del/del genotype contributes to its increased accumulation in the liver and blood of animals without compromising their health status or liver function. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

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12 pages, 849 KiB

Open AccessArticle

The Analysis of a Genome-Wide Association Study (GWAS) of Overweight and Obesity in Psoriasis

by Anna Kisielnicka, Marta Sobalska-Kwapis, Dorota Purzycka-Bohdan, Bogusław Nedoszytko, Monika Zabłotna, Michał Seweryn, Dominik Strapagiel, Roman J. Nowicki, Adam Reich, Dominik Samotij, Justyna Szczęch, Dorota Krasowska, Joanna Bartosińska, Joanna Narbutt, Aleksandra Lesiak, Paulina Barasińska, Agnieszka Owczarczyk-Saczonek, Joanna Czerwińska, Jacek C. Szepietowski, Aleksandra Batycka-Baran, Rafał Czajkowski, Magdalena Górecka-Sokołowska, Lidia Rudnicka, Joanna Czuwara and Aneta Szczerkowska-Dobosz Show full author list Hide full author list

Int. J. Mol. Sci. 2022, 23(13), 7396; https://doi.org/10.3390/ijms23137396 - 2 Jul 2022

Cited by 14 | Viewed by 3118

Abstract

There is evidence that the concomitance of psoriasis and obesity may originate from the interplay between multiple genetic pathways and involve gene–gene interactions. The aim of this study was to compare the genetic background related to obesity among psoriatic patients versus healthy controls by means of a Genome-Wide Association Study (GWAS). A total of 972 psoriatic patients and a total of 5878 healthy donors were enrolled in this study. DNA samples were genotyped for over 500,000 single nucleotide polymorphisms (SNPs) using Infinium CoreExome BeadChips (Illumina, San Diego, CA, USA). Statistical analysis identified eleven signals (p < 1 × 10⁻⁵) associated with BMI across the study groups and revealed a varying effect size in each sub-cohort. Seven of the alternative alleles (rs1558902 in the FTO gene, rs696574 in the CALCRL gene, as well as rs10968110, rs4551082, rs4609724, rs9320269, and rs2338833,) are associated with increased BMI among all psoriatic patients and four (rs1556519 in the ITLN2 gene, rs12972098 in the AC003006.7 gene, rs12676670 in the PAG1 gene, and rs1321529) are associated with lower BMI. The results of our study may lead to further insights into the understanding of the pathogenesis of obesity among psoriatic patients. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

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17 pages, 1673 KiB

Open AccessArticle

The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies

by Elżbieta Kaja, Adrian Lejman, Dawid Sielski, Mateusz Sypniewski, Tomasz Gambin, Mateusz Dawidziuk, Tomasz Suchocki, Paweł Golik, Marzena Wojtaszewska, Magdalena Mroczek, Maria Stępień, Joanna Szyda, Karolina Lisiak-Teodorczyk, Filip Wolbach, Daria Kołodziejska, Katarzyna Ferdyn, Maciej Dąbrowski, Alicja Woźna, Marcin Żytkiewicz, Anna Bodora-Troińska, Waldemar Elikowski, Zbigniew J. Król, Artur Zaczyński, Agnieszka Pawlak, Robert Gil, Waldemar Wierzba, Paula Dobosz, Katarzyna Zawadzka, Paweł Zawadzki and Paweł Sztromwasser Show full author list Hide full author list

Int. J. Mol. Sci. 2022, 23(9), 4532; https://doi.org/10.3390/ijms23094532 - 20 Apr 2022

Cited by 21 | Viewed by 6733

Abstract

Although Slavic populations account for over 4.5% of world inhabitants, no centralised, open-source reference database of genetic variation of any Slavic population exists to date. Such data are crucial for clinical genetics, biomedical research, as well as archeological and historical studies. The Polish population, which is homogenous and sedentary in its nature but influenced by many migrations of the past, is unique and could serve as a genetic reference for the Slavic nations. In this study, we analysed whole genomes of 1222 Poles to identify and genotype a wide spectrum of genomic variation, such as small and structural variants, runs of homozygosity, mitochondrial haplogroups, and de novo variants. Common variant analyses showed that the Polish cohort is highly homogenous and shares ancestry with other European populations. In rare variant analyses, we identified 32 autosomal-recessive genes with significantly different frequencies of pathogenic alleles in the Polish population as compared to the non-Finish Europeans, including C2, TGM5, NUP93, C19orf12, and PROP1. The allele frequencies for small and structural variants, calculated for 1076 unrelated individuals, are released publicly as The Thousand Polish Genomes database, and will contribute to the worldwide genomic resources available to researchers and clinicians. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

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15 pages, 3366 KiB

Open AccessArticle

Characteristics of Transfer RNA-Derived Fragments Expressed during Human Renal Cell Development: The Role of Dicer in tRF Biogenesis

by Marek Kazimierczyk, Marta Wojnicka, Ewa Biała, Paulina Żydowicz-Machtel, Barbara Imiołczyk, Tomasz Ostrowski, Anna Kurzyńska-Kokorniak and Jan Wrzesinski

Int. J. Mol. Sci. 2022, 23(7), 3644; https://doi.org/10.3390/ijms23073644 - 26 Mar 2022

Cited by 17 | Viewed by 3326

Abstract

tRNA-derived fragments participate in the regulation of many processes, such as gene silencing, splicing and translation in many organisms, ranging from bacteria to humans. We were interested to know how tRF abundance changes during the different stages of renal cell development. The research model used here consisted of the following human renal cells: hESCs, HEK-293T, HK-2 and A-489 kidney tumor cells, which, together, mimic the different stages of kidney development. The characteristics of the most abundant tRFs, tRFGly(CCC), tRFVal(AAC) and tRFArg(CCU), were presented. It was found that these parental tRNAs present in cells are the source of many tRFs, thus increasing the pool of potential regulatory RNAs. Indeed, a bioinformatic analysis showed the possibility that tRFGly(CCC) and tRRFVal(AAC) could regulate the activity of a range of kidney proteins. Moreover, the distribution of tRFs and the efficiency of their expression is similar in adult and embryonic stem cells. During the formation of tRFs, HK-2 cells resemble A-498 cancer cells more than other cells. Additionally, we postulate the involvement of Dicer nuclease in the formation of tRF-5b in all the analyzed tRNAs. To confirm this, 293T NoDice cells, which in the absence of Dicer activity do not generate tRF-5b, were used. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

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Review

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21 pages, 4614 KiB

Open AccessReview

Does a Little Difference Make a Big Difference? Bovine β-Casein A1 and A2 Variants and Human Health—An Update

by Anna Cieślińska, Ewa Fiedorowicz, Dominika Rozmus, Edyta Sienkiewicz-Szłapka, Beata Jarmołowska and Stanisław Kamiński

Int. J. Mol. Sci. 2022, 23(24), 15637; https://doi.org/10.3390/ijms232415637 - 9 Dec 2022

Cited by 17 | Viewed by 6766

Abstract

For over 20 years, bovine beta-casein has been a subject of increasing scientific interest because its genetic A1 variant during gastrointestinal digestion releases opioid-like peptide β-casomorphin-7 (β-CM-7). Since β-CM-7 is involved in the dysregulation of many physiological processes, there is a growing discussion of whether the consumption of the β-casein A1 variant has an influence on human health. In the last decade, the number of papers dealing with this problem has substantially increased. The newest clinical studies on humans showed a negative effect of variant A1 on serum glutathione level, digestive well-being, cognitive performance score in children, and mood score in women. Scientific reports in this field can affect the policies of dairy cattle breeders and the milk industry, leading to the elimination of allele A1 in dairy cattle populations and promoting milk products based on milk from cows with the A2A2 genotype. More scientific proof, especially in well-designed clinical studies, is necessary to determine whether a little difference in the β-casein amino acid sequence negatively affects the health of milk consumers. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

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11 pages, 2943 KiB

Open AccessCase Report

Identification and In Silico Characterization of a Novel COLGALT2 Gene Variant in a Child with Mucosal Rectal Prolapse

by Anna Sadakierska-Chudy, Paweł Szymanowski, Arleta Lebioda and Rafał Płoski

Int. J. Mol. Sci. 2022, 23(7), 3670; https://doi.org/10.3390/ijms23073670 - 27 Mar 2022

Cited by 1 | Viewed by 2630

Abstract

Rectal prolapse is influenced by many factors including connective tissue dysfunction. Currently, there is no data about genetic contribution in the etiology of this disorder. In this study, we performed trio whole-exome sequencing in an 11-year-old girl with mucosal rectal prolapse and her parents and sibling. Genetic testing revealed a novel heterozygous missense variant c.1406G>T; p.G469V in exon 11 of the COLGALT2 gene encoding the GLT25 D2 enzyme. Sanger sequencing confirmed this variant only in the patient while the mother, father and sister showed a wild-type sequence. The pathogenicity of the novel variant was predicted using 10 different in silico tools that classified it as pathogenic. Further, in silico prediction, according to Phyre2, Project HOPE, I-Mutant3.0 and MutPred2 showed that the missense variant can decrease protein stability and cause alterations in the physical properties of amino acids resulting in structural and functional changes of the GLT25D2 protein. In conclusion, the present study identifies a previously unknown missense mutation in the COLGALT2 gene that encodes the enzyme involved in collagen glycosylation. The clinical features observed in the patient and the results of in silico analysis suggest that the new genetic variant can be pathogenic. Full article

(This article belongs to the Special Issue State-of-the-Art Molecular Genetics and Genomics in Poland)

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