Minerva pediatrica · 2015
Spectrum of cystic fibrosis mutations in Syrian patients.
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Jarjour Rami A, Al-Berrawi Sumaya, Ammar Samer, Majdalawi Rami
Аннотация
BACKGROUND: 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.
METHODS: 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%).
RESULTS: 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.
CONCLUSIONS: These results provide important tools for adapting a molecular diagnostic test and prenatal diagnosis for the Syrian population.
METHODS: 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%).
RESULTS: 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.
CONCLUSIONS: These results provide important tools for adapting a molecular diagnostic test and prenatal diagnosis for the Syrian population.