Jarjour Rami A, Al-Berrawi Sumaya, Ammar Samer, Majdalawi Rami
Unit of Clinical Genetics, Department of Molecular Biology and Biotechnology, Atomic Energy Commission of Syria (AECS), Damascus, Syria -
Unit of Clinical Genetics, Department of Molecular Biology and Biotechnology, Atomic Energy Commission of Syria (AECS), Damascus, Syria.
Minerva Pediatr. 2018 Apr;70(2):159-164. doi: 10.23736/S0026-4946.17.04280-3. Epub 2015 Jun 4.
Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. However, it is considered to be rare in Arabs. Reports of the cystic fibrosis transmembrane regulator (CFTR) mutations from Syrians are limited. The main aim of this study was to identify the frequency of CFTR mutations in 25 CF patients. To the best of our knowledge, this is the first comprehensive report about CF in Syrian patients.
The main clinical presentations were respiratory system symptoms (recurrent pneumonia and chronic cough) in 16 (64%) patients, failure to thrive in 15 (60%), GI system symptoms (diarrhea, steatorrhea) in 15 (60%) and nasal polyps in 1 (4%).
A total of 36 known mutations in the CFTR gene were screened among 25 CF Syrian patients. However, 13 different CFTR mutations were identified. These mutations in order of frequency were: ΔF508 (18%), W1282X (12%), I148T (6%), CFTRdel 2.3 (6%), 2182AA→G (6%), G542X (6%), N1303K (6%), G551D (4%), G85E (4%), R117H (4%), G85E (4%), R347P (2%), M.2183AA>G (2%) and 3199del6 (2%). However, 22% of the total mutations could not be detected in this study. Moreover, 142 healthy Syrian individuals were tested for ΔF508 and G551D mutations in an attempt to determine the carrier rate in the Syrian population. These two mutations were not detected in this cohort of healthy Syrians.
These results provide important tools for adapting a molecular diagnostic test and prenatal diagnosis for the Syrian population.
囊性纤维化（CF）是白种人中最常见的常染色体隐性疾病。然而，在阿拉伯人中该病被认为较为罕见。来自叙利亚的囊性纤维化跨膜传导调节因子（CFTR）突变报告有限。本研究的主要目的是确定25例CF患者中CFTR突变的频率。据我们所知，这是关于叙利亚患者CF的首份全面报告。
主要临床表现为呼吸系统症状（反复肺炎和慢性咳嗽）的患者有16例（64%），发育不良的有15例（60%），胃肠道系统症状（腹泻、脂肪泻）的有15例（60%），鼻息肉的有1例（4%）。
在25例叙利亚CF患者中筛查了CFTR基因的36种已知突变。然而，共鉴定出13种不同的CFTR突变。这些突变按频率排序依次为：ΔF508（18%）、W1282X（12%）、I148T（6%）、CFTRdel 2.3（6%）、2182AA→G（6%）、G542X（6%）、N1303K（6%）、G551D（4%）、G85E（4%）、R117H（4%）、G85E（4%）、R347P（2%）、M.2183AA>G（2%）和3199del6（2%）。然而，本研究中未检测到22%的总突变。此外，对142名健康叙利亚个体进行了ΔF508和G551D突变检测，以试图确定叙利亚人群中的携带率。在这组健康叙利亚人中未检测到这两种突变。
这些结果为针对叙利亚人群调整分子诊断检测和产前诊断提供了重要工具。
