Balkan Journal of Medical Genetics最新文献

Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene. 端粒酶逆转录酶（TERT）基因致病变异婴儿的超早期弥漫性肺病

IF 0.5 4区医学

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI: 10.2478/bjmg-2024-0008

J Visekruna, M Basa, T Grba, M Andjelkovic, S Pavlovic, N Nathan, A Sovtic

{"title":"Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene.","authors":"J Visekruna, M Basa, T Grba, M Andjelkovic, S Pavlovic, N Nathan, A Sovtic","doi":"10.2478/bjmg-2024-0008","DOIUrl":"https://doi.org/10.2478/bjmg-2024-0008","url":null,"abstract":"The pathogenic variants in the telomerase reverse transcriptase (TERT) gene have been identified in adults with idiopathic pulmonary fibrosis, while their connection to childhood diffuse lung disease has not yet been described. Within this study, we present a case of a five-month-old, previously healthy infant, with early-onset respiratory failure. The clinical suspicion of diffuse lung disease triggered by cytomegalovirus (CMV) pneumonitis was based on clinical and radiological presentation. Multiorgan involvement was not confirmed. Considering the possible connection between CMV pneumonitis and early-onset respiratory failure, clinical exome sequencing was performed and a novel variant, classified as likely pathogenic in the TERT gene (c.280A>T, p.Lys94Ter) was detected. After segregation analysis yielded negative results, the de novo status of the variant was confirmed. Respiratory support, antiviral and anti-inflammatory therapy offered modest benefits, nevertheless, eighteen months after the initial presentation of disease, an unfavourable outcome occurred. In conclusion, severe viral pneumonia has the potential to induce extremely rare early-onset diffuse lung disease accompanied by chronic respiratory insufficiency. This is linked to pathogenic variants in the TERT gene. Our comprehensive presentation of the patient contributes to valuable insights into the intricate interplay of genetic factors, clinical presentations, and therapeutic outcomes in cases of early-onset respiratory failure.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11385016/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience. 先天性腹泻症 7 中发现的新型 DGAT1 基因突变：病例报告与治疗经验。

IF 0.5 4区医学

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI: 10.2478/bjmg-2024-0005

C Shi, X L Liu, X N Li, Y J Zhao

引用次数: 0

Comparison of FGF-8, FGF-10, FGF-Receptor 2, Androgen Receptor, Estrogen Receptor-A and SS in Healthy and Hypospadiac Children. 健康和尿道下裂儿童的 FGF-8、FGF-10、FGF-受体 2、雄激素受体、雌激素受体-A 和 SS 的比较。

IF 0.5 4区医学

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI: 10.2478/bjmg-2024-0002

N Emaratpardaz, Z Turkyilmaz, R Karabulut, D Dayanir, C Kaya, Aae Sert, G Arkan, F A Ucaner, A Kapisiz, S Eryilmaz, A Atan, K Sonmez

{"title":"Comparison of FGF-8, FGF-10, FGF-Receptor 2, Androgen Receptor, Estrogen Receptor-A and SS in Healthy and Hypospadiac Children.","authors":"N Emaratpardaz, Z Turkyilmaz, R Karabulut, D Dayanir, C Kaya, Aae Sert, G Arkan, F A Ucaner, A Kapisiz, S Eryilmaz, A Atan, K Sonmez","doi":"10.2478/bjmg-2024-0002","DOIUrl":"https://doi.org/10.2478/bjmg-2024-0002","url":null,"abstract":"In this study, we aimed to investigate the levels of Fibroblast Growth Factor-8 (FGF-8), FGF-10, FGF-Receptor-2 (FGFR-2), Androgen receptor (AR), Estrogen receptor alpha and beta (ER-α and ER-β) in the foreskins of children with and without hypospadias.Methods: Samples from the foreskins of 20 children with hypospadias and 20 skin samples from children without hypospadias between the ages of 14 months and 12 years were taken during circumcision or hypospadias correction surgery for immunohistochemical (IHC) examination of these markers. In IHC examination, it was shown that ER-α, ER-β and AR receptors were more involved in the foreskin of children with hypospadias than in the fore-skin of without hypospadias children, and FGF-8, FGF-10 and FGFR-2 were lower (p<0.05). ER and AR uptake were higher in hypospadias tissue samples and FGF-8, FGF-10, and FGFR-2 uptakes were lower compared to without hypospadias children's tissue samples, and these factors were supported by affecting each other in the development of hypospadias. The limited number of studies on this subject in the literature and the contradictory results of the findings indicate that more research should be done on this subject in the future.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11384132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IGHV Mutational Status in a Cohort of Bulgarian CLL Patients: High Unmutated CLL Prevalence in North-East Bulgaria. 保加利亚 CLL 患者队列中的 IGHV 突变状态：保加利亚东北部未突变 CLL 患病率较高

IF 0.5 4区医学

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI: 10.2478/bjmg-2024-0003

A Yosifova, I Micheva, M Donchev, S Tincheva, S Ormandjiev, J Genova, Z Pavlova, A Todorova

{"title":"IGHV Mutational Status in a Cohort of Bulgarian CLL Patients: High Unmutated CLL Prevalence in North-East Bulgaria.","authors":"A Yosifova, I Micheva, M Donchev, S Tincheva, S Ormandjiev, J Genova, Z Pavlova, A Todorova","doi":"10.2478/bjmg-2024-0003","DOIUrl":"https://doi.org/10.2478/bjmg-2024-0003","url":null,"abstract":"Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. One of the best established CLL prognostic markers is the somatic hypermutational status of the IGHV gene which is a part of the immunoglobulin heavy chain variable region. Technology for IGHV genotyping has been optimized and has been applied in routine diagnostics for the first time in Bulgaria. A total of 105 patients with CLL from different Bulgarian regions were tested. IGHV mutational status was determined by Sanger sequencing on total genomic DNA (gDNA) or RNA extracted from mononuclear cells. All sequencing profiles were analyzed with the IMGT/V-QUEST tool. Within the course of the analysis a high percentage of IGHV unmutated status was established in the Varna district on the Black Sea (Northeast Bulgaria). In addition, the IGHV genotyping performed on gDNA revealed a rare case with multiple rearrangements. The present data from IGHV genotyping will help in choosing the proper treatment for the benefit of Bulgarian CLL patients.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11384134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Meaning and Clinical Interest of Minor Malformations and Normal Variants in Neonatology. 新生儿科轻微畸形和正常变异的意义和临床意义。

IF 0.5 4区医学

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI: 10.2478/bjmg-2024-0010

S Grubeša Raguž, M Jerković Raguž, J Brzica, S Džida, S Mikulić, A Kolobarić, T Galić

{"title":"Meaning and Clinical Interest of Minor Malformations and Normal Variants in Neonatology.","authors":"S Grubeša Raguž, M Jerković Raguž, J Brzica, S Džida, S Mikulić, A Kolobarić, T Galić","doi":"10.2478/bjmg-2024-0010","DOIUrl":"https://doi.org/10.2478/bjmg-2024-0010","url":null,"abstract":"Congenital malformations can be found in all organ systems of a newborn. Almost two-thirds of congenital malformations have an unknown cause. There are minor (mM) and major (MM) congenital malformations. Searching for minor malformations has its vital place in everyday neonatology practice. Minor malformations are defined as physical variants that have no medical consequences and are mostly located on the face and distal parts of the extremities and are easily noticed. Minor malformations occur in approximately 15% of newborns. Minor congenital malformations are of great importance because they can be an indicator of the existence of major congenital malformations and syndromes. In a one-year retrospective study that analyzed the occurrence of 38 minor malformations through the year 2023 at the University Clinical Hospital of Mostar, there was an incidence of 10.59% of minor malformations. The most frequently recorded minor malformation was deep a sacral dimple at 44.72%, then poorly modeled ears at 15.08%, and moderate rectal diastasis at 14.58%. Three or more minor congenital malformations indicate one or more major congenital malformations. Major congenital malformations are severe structural defects of tissues and organs that endanger life, create serious functional disturbances and hinder the development of the child. In our country, there is currently a recorded incidence of 8.04%. The search for minor malformations in the newborn period is of great importance to children and the whole family, and the search must not be neglected.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11384133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

High-Resolution HLA-DRB1 Allele Frequencies in a Romanian Cohort of Stem Cell Donors. 罗马尼亚干细胞捐献者队列中的高分辨率 HLA-DRB1 等位基因频率。

IF 0.5 4区医学

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI: 10.2478/bjmg-2024-0009

M A Caragea, I R Ursu, D L Visan, I Maruntelu, P Iordache, A Constantinescu, M Tizu, A Tălăngescu, I Constantinescu

{"title":"High-Resolution HLA-DRB1 Allele Frequencies in a Romanian Cohort of Stem Cell Donors.","authors":"M A Caragea, I R Ursu, D L Visan, I Maruntelu, P Iordache, A Constantinescu, M Tizu, A Tălăngescu, I Constantinescu","doi":"10.2478/bjmg-2024-0009","DOIUrl":"https://doi.org/10.2478/bjmg-2024-0009","url":null,"abstract":"The goal of the current study was to determine the high-resolution frequencies of the HLA-DRB1 alleles among the analyzed Romanian cohort of healthy stem cell donors. Using Next Generation Sequencing (NGS), we estimated class II HLA-DRB1 allele frequencies to a 6-digit resolution through HLA typing in a Romanian cohort of healthy individuals. The study for HLA genotyping included 420 willing donors from the National Registry of Voluntary Hematopoietic Stem Cell Donors (RNDVCSH). In 2020 and 2021, peripheral blood samples were collected and transported to the Fundeni Clinical Institute. We used the Immucor Mia Fora NGS MFlex kit for HLA genotyping. Forty-one different alleles were detected in 420 analyzed samples, out of which the most frequent HLA-DRB1 alleles were DRB1*16:01:01 (12.6%), DRB1*11:04:01 (12.1%) and DRB1*03:01:01 (12%). The HLA-DRB1*11:01:02 and -DRB1*08:04:01, -DRB1*05:01:01, -DRB1*13:05:01, -DRB1*14:07:01, -DRB1*09:01:02, -DRB1*11:02:01, -DRB1*04:07:01, -DRB1*15:03:01, -DRB1*03:02:01, -DRB1*04:06:02, -DRB1*04:08:01, -DRB1*14:05:01 were identified only once. The results revealed similarities with countries belonging to the Eastern Europe, the Balkans and the Caucasus regions. Further studies on larger Romanian cohorts are needed for confirming the current results.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11385019/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

ANXA5 and VEGFA Gene Variants in Women with Early Pregnancy Losses from North Macedonia. 北马其顿早孕妇女的 ANXA5 和 VEGFA 基因变异。

IF 0.5 4区医学

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI: 10.2478/bjmg-2024-0006

M Terzikj, Gj Bozhinovski, A Branoski, M Dimkovska, K Kubelka-Sabit, D Plaseska-Karanfilska

{"title":"ANXA5 and VEGFA Gene Variants in Women with Early Pregnancy Losses from North Macedonia.","authors":"M Terzikj, Gj Bozhinovski, A Branoski, M Dimkovska, K Kubelka-Sabit, D Plaseska-Karanfilska","doi":"10.2478/bjmg-2024-0006","DOIUrl":"https://doi.org/10.2478/bjmg-2024-0006","url":null,"abstract":"Early pregnancy loss (EPL) is the most common pregnancy complication, found in approximately 15% of all clinically recognized pregnancy complications. Up to date, various maternal as well as fetal factors are reported as a cause of EPLs. However, in approximately 50% of EPL cases, the exact cause is not clearly identified and these cases are referred as idiopathic. The aim of our study was to examine the association of four distinct variants in the ANXA5 gene and two variants within the VEGFA gene in a cohort of women with EPLs from North Macedonia. This group was compared to a control group of women matched by ethnic background without pregnancy loss and at least one live birth. We also aimed to establish an effective and cost-efficient method for their detection based on multiplex single-base extension. Among 190 women experiencing EPLs, and 190 samples from women without a history of pregnancy loss (control group), our results demonstrated a statistically significant prevalence of heterozygotes for the M2/ANXA5 haplotype in women with EPLs, compared to the control group (p=0.0006). In the analyses comparing genotypic frequencies for the variants in the VEGFA gene, higher frequencies were generally observed among women experiencing EPLs, however without statistical significance. Our study aligns with multiple studies showing that M2 and M1 ANXA5 haplotypes are more prevalent in patients with pregnancy loss and presents an affordable genotyping technique for the specific ANXA5 and VEGFA variants.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11384135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay. 分子生物学分析对同型血红蛋白马来实验室诊断的重要性。

IF 0.5 4区医学

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI: 10.2478/bjmg-2024-0001

R Bahar, Z Zulkafli, R H Zulkeflee, M N Hassan, S Wan Ab Rahman Wan, Nh M Noor, M Ramli, A Hussin, A D Abdullah, S Iberahim, M Abdullah, S M Yusoff

{"title":"The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay.","authors":"R Bahar, Z Zulkafli, R H Zulkeflee, M N Hassan, S Wan Ab Rahman Wan, Nh M Noor, M Ramli, A Hussin, A D Abdullah, S Iberahim, M Abdullah, S M Yusoff","doi":"10.2478/bjmg-2024-0001","DOIUrl":"https://doi.org/10.2478/bjmg-2024-0001","url":null,"abstract":"Haemoglobin (Hb) Malay is variant haemoglobin with a β++ thalassemia phenotype. The prevalence of Hb Malay in the Malaysian population was 5.5%. We describe a 58-year-old male who presented with symptomatic anaemia to the Hospital Universiti Sains Malaysia. Further history revealed that the patient had anaemia since the age of 28, and on regular follow-up at other hospital. Physical examination revealed pallor, jaundice and hepatosplenomegaly. The full blood count and peripheral blood smear showed hypochromic microcytic anaemia with anisopoikilocytosis, and many target cells. High-performance liquid chromatography results showed a β thalassemia trait. However, the diagnosis does not alight with the patient's condition. Bone marrow aspirate was completed and showed reactive changes and erythroid hyperplasia. A molecular test was then performed for β globin gene mutation detection using Multiplex Amplification Refractory Mutation System (M-ARMS) PCR method. This revealed the result as homozygous codon 19 mutation or Hb Malay. Therefore, in this case report we would like to highlight the laboratory approaches, the challenges faced by the usual haematological investigations and the importance role of molecular testing in the diagnosis of severe anaemia.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11387093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Impact of the COVID-19 Pandemic on Individuals with Down Syndrome: A Croatian Survey. COVID-19 大流行对唐氏综合症患者的影响：克罗地亚调查。

IF 0.5 4区医学

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI: 10.2478/bjmg-2024-0007

A Barišić, M Ergović Ravančić, D Majstorović, J Vraneković

{"title":"The Impact of the COVID-19 Pandemic on Individuals with Down Syndrome: A Croatian Survey.","authors":"A Barišić, M Ergović Ravančić, D Majstorović, J Vraneković","doi":"10.2478/bjmg-2024-0007","DOIUrl":"https://doi.org/10.2478/bjmg-2024-0007","url":null,"abstract":"Background: Severe acute respiratory syndrome coronavirus-2 infection has spread uncontrollably worldwide. Among the most vulnerable groups in society are populations with multiple comorbidities, including individuals with Down syndrome (DS).Aim: Our aim was to conduct an online survey to assess the impact of COVID-19 on DS individuals in Croatia. We also explored the views of their parents and caregivers about the challenges they faced during COVID-19.Methods: The anonymous online survey was launched in March 2022 and remained open until October 2022. Participants were conducted online through closed group on Facebook. The survey included questions about participant characteristics, medical information, clinical presentation of COVID-19, and challenges faced by the parents during COVID-19.Results: A total of 268 surveys were collected and analysed. We found that age and body mass index of DS individuals were significantly and positively correlated with the clinical presentation of COVID-19. Lack of social activities, cancelled therapies, and psychological problems were the most frequently cited challenges during the pandemic.Conclusion: Clinicians and caregivers should primarily be alert to the same COVID-19 signs and symptoms that occur in the general population (fever, cough, shortness of breath). Ongoing therapies, social activities, and psychological support should be cited as indispensable for maintaining physical health and emotional well-being in DS individuals.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11383832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients. 阿尔巴尼亚患者囊性纤维化突变的范围和频率。

IF 0.5 4区医学

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI: 10.2478/bjmg-2024-0004

I Kasmi, G Kasmi, B Basholli, H S Sefa, E Vevecka

{"title":"The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients.","authors":"I Kasmi, G Kasmi, B Basholli, H S Sefa, E Vevecka","doi":"10.2478/bjmg-2024-0004","DOIUrl":"https://doi.org/10.2478/bjmg-2024-0004","url":null,"abstract":"Background: Cystic fibrosis (CF) is a genetic disease characterized by a wide spectrum of severity, resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR). The aim of the study was to present a CFTR mutation analysis among the Albanian population and to identify rare variants.Methods: We identified CFTR mutations in a representative cohort of CF patients comprising of Albanian patients and some Kosovo patients followed up by the Department of Pediatrics at the University Hospital Center \"Mother Theresa\" (UHCMT). Compiled clinical and genotypic data include 133 previously analyzed patients, of whom 116 have two identified mutations, 6 have only one known mutation, and 11 are unexamined.Results: The most frequent mutation is F508del (83.19%), followed by 621+1G>T (2.45%). Other mutations identified in decrease order are E822X, G85E, G542X, R1066C, R1070Q, R1158X, G1349D, N1303K, S466X, 1811+1G->C, E831X, CFTRdele2,3(21kb).Conclusions: The data suggest that most of these patients can benefit from new modulatory therapies targeting CFTR mutations, translating to very hopeful prospects for these patients.The Albanian population would benefit from Cystic Fibrosis neonatal screening, since outcomes can be improved through early diagnosis.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11432417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142332874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0