ABCMdb

PMID: 15537723

Jalalirad M, Houshmand M, Mirfakhraie R, Goharbari MH, Mirzajani F
First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations.
J Trop Pediatr. 2004 Dec;50(6):359-61., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Trp1282* ABCC7 p.Gly542* The next most common mutations were W1282X (4 per cent) and G542X (2.7 per cent). Login to comment 14 ABCC7 p.Trp1282* One patient was heterozygous for W1282X who inherited the defective allele from her mother (Fig. 1). Login to comment 15 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Ala120Thr Most of the families in whom ∆F508, W1282X, and G542X mutations BRIEF REPORTS Journal of Tropical Pediatrics Vol. 50, No. Login to comment 16 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Ala120Thr ABCC7 p.Ala120Thr 6 359 First Study of CF Mutations in the CFTR Gene of Iranian Patients: Detection of ∆F508, G542X, W1282X, A120T, R117H, and R347H Mutations by M. Jalalirad,a,b M. Houshmand,a R. Mirfakhraie,a M. H. Goharbari,a and F. Mirzajania a National Research Center for Genetic Engineering and Biotechnology (NRCGEB),Tehran, Iran b Biology Department, Gilan University, Rasht, Iran Summary Thirty-seven unrelated Iranian CF families were screened for the presence of seven common mutations (∆F508, G542X, W1282X, G551D, N1303K, 1717-1G→A, and 621-1G→T) using ARMS PCR and exons 4 and 7 of the CFTR gene by SSCP method. Login to comment 17 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Gly542* ABCC7 p.Ala120Thr ABCC7 p.Ala120Thr This study resulted in the identification of 26.8 per cent of all CF alleles: ∆F508 (16.2 per cent), W1282X (4 per cent), G542X (2.7 per cent), R117H (1.3 per cent), R347H (1.3 per cent), and A120T (1.3 per cent) mutations were detected. Login to comment 18 ABCC7 p.Ala120Thr To the best of our knowledge, it is the first report of an Asian subject carrying the A120T mutation. Login to comment 24 ABCC7 p.Arg117His R117H mutation was detected in a 3.5-year-old female suffering from pulmonary infections with no reported data concerning pancreatic insufficiency. Login to comment 25 ABCC7 p.Arg117His R117H mutation was detected in a 3.5-year-old female suffering from pulmonary infections with no reported data concerning pancreatic insufficiency. Login to comment 31 ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Gly542* The next two most common mutations were W1282X (4 per cent) and G542X (2.7 per cent), which have high frequencies in Mediterranean countries.11 R347H, which has the highest incidence in Turkey,8 was detected in a Turkish child residing in north-west Iran with normal sweat chloride values. Login to comment 32 ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Gly542* ABCC7 p.Asp979Ala The next two most common mutations were W1282X (4 per cent) and G542X (2.7 per cent), which have high frequencies in Mediterranean countries.11 R347H, which has the highest incidence in Turkey,8 was detected in a Turkish child residing in north-west Iran with normal sweat chloride values. Login to comment 33 ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Asp979Ala ABCC7 p.Ala120Thr As regards R347H mutation and sex, two female patients carrying genotypes ∆F508/R347H and ∆F508/R347H + D979A have been reported so far.12,13 Our R347H compound case is the first female who does not carry the ∆F508 mutation as the other CF allele. Login to comment 34 ABCC7 p.Ala120Thr ABCC7 p.Ala120Thr The A120T mutation was found in a 28-year-old female who had presented with cough, sputum, otitis, fever, myalgia, and fatigue since the age of 3 years and no available documented sweat test. Login to comment 35 ABCC7 p.Ala120Thr Recently, this mutation was detected in a child showing mild symptoms of disease.14 According to our knowledge, this is the first case of an Asian subject carrying the A120T mutation. Login to comment