The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients.

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
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
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引用次数: 0

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.

阿尔巴尼亚患者囊性纤维化突变的范围和频率。
背景:囊性纤维化(CF)是一种遗传性疾病,因囊性纤维化跨膜传导调节器(CFTR)基因的等位基因突变而遗传,严重程度不一。本研究旨在对阿尔巴尼亚人群中的 CFTR 基因突变进行分析,并找出罕见变异:我们在具有代表性的 CF 患者队列中发现了 CFTR 变异,这些患者包括阿尔巴尼亚患者和由 "特蕾莎修女 "大学医院中心(UHCMT)儿科部随访的一些科索沃患者。汇编的临床和基因型数据包括 133 名先前分析过的患者,其中 116 人有两个已确定的突变,6 人只有一个已知的突变,11 人未经检查:最常见的突变是F508del(83.19%),其次是621+1G>T(2.45%)。其他突变依次为 E822X、G85E、G542X、R1066C、R1070Q、R1158X、G1349D、N1303K、S466X、1811+1G->C、E831X、CFTRdele2,3(21kb):数据表明,这些患者中的大多数都能从针对 CFTR 基因突变的新调节疗法中获益,这为这些患者带来了非常光明的前景。阿尔巴尼亚人将从囊性纤维化新生儿筛查中获益,因为通过早期诊断可以改善治疗效果。
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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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