ABCMdb

PMID: 23724185

Farjadian S, Moghtaderi M, Kashef S, Alyasin S, Najib K, Saki F
Clinical and genetic features in patients with cystic fibrosis in southwestern iran.
Iran J Pediatr. 2013 Apr;23(2):212-5., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Arg1162* The R1162X mutation was detected in two patients. Login to comment 10 ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The G542X, R334W and N1303K mutations were detected each in one patient, the first of whom was also a ࢞F508 carrier. Login to comment 26 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr ABCC7 p.Asp1152His ABCC7 p.Glu60* Genomic DNA was extracted from 200 &#b5;L of whole blood with the QiaAmp DNA Mini Kit (Qiagen, Valencia, CA, USA) and 29 common CFTR gene mutations (D1152H, 1717-1G>A, G542X, W1282X, N1303K, ࢞F508, 3849+10kbC>T, 394delTT, 621+1G>T, S1251N, G551D, R117H, R1162X, R334W, A455E, 2183AA>G, 3659delC, 1078delT, ࢞I507, R347P, R553X, E60X, 3120+1G>A, 2789+5G>A, 1898+1G>A, 711+1G>T, G85E, 2184delA and R560T) were analyzed with the ELUCIGENE CF29 v. 2 kit using four multiplex PCR. Login to comment 33 ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* Table 1: Early clinical symptoms in patients from southwestern Iran with cystic fibrosis (n=45) Frequency Clinical symptoms 38 (84%) Chronic cough Respiratory symptoms 37 (82%) Bronchiolitis 35 (78%) Recurrent pneumonia 34 (76%) Purulent sputum 31(69%) Recurrent wheeze 18 (40%) Atelectasias 6 (13%) Bronchiectasis 4 (9%) Recurrent sinusitis 2 (4%) Hemoptysis 1(2%) Cor pulmonale 37 (82%) Steatorrhea Gasterointestinal symptoms 24 (53%) Growth failure 9 (20%) Liver disease 6 (13%) Distal intestinal obstruction 3 (7%) Diarrhea 2 (4%) Constipation 2 (4%) Meconium ileus 2 (4%) Dehydration Other symptoms 2 (4%) Heat exhaustion --- Vasculitis --- Diabetes 214 CFTR Gene Mutations in CF Patients Iran J Pediatr; Vol 23 (No 2), Apr 2013 Published by: Tehran University of Medical Sciences (http://ijp.tums.ac.ir) Table 2: Frequencies of CFTR gene mutations in a sample of patients in southwestern Iran with cystic fibrosis n=45 CFTR gene mutations 8 (18%) ࢞F508 (M)/ ࢞F508 (M) 3 (7%) ࢞F508 (N)/ 2183AA>G 2 (4%) ࢞F508 (N)/ R1162X 1 (2%) ࢞F508 (N)/ R334W 1 (2%) ࢞F508 (N)/ N1303K 1 (2%) ࢞F508 (M)/ G542X 1 (2%) ࢞F508 (M)/ 2183AA>G 1 (2%) ࢞F508 (M)/ ࢞F508 (N) 27 (60%) Undefined Parental consanguinity was found in 40 patients (89%) and a family history of CF was reported by 15 patients (37%) in this group. Login to comment 82 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Gly542* ABCC7 p.Ala120Thr Jalalirad M, Houshmand M, Mirfakhraie R, et al. First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations. Login to comment