ABCMdb

PMID: 9660057

Schaedel C, Andersson AM, Kristoffersson AC, Kornfalt R, Lannefors L, Holmberg L
Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I.
Clin Genet. 1998 May;53(5):383-6., [PubMed]

Sentences

No. Mutations Sentence Comment

16 ABCC7 p.Thr338Ile ABCC7 p.Ser549Ile Here we compare the clinical picture in a group of patients with missense mutations or the 5T allele with that in AF508 homozygotes and, especially, describe the features in the S549I and T338I mutations, for which our experience differs from earlier reports. Login to comment 22 ABCC7 p.Arg117His Two patients (one with R117H/394delTT and another with R117ClAF508) were diagnosed as having CF during an infertility investigation, and except for age at diagnosis no clinical data were available; they were therefore excluded from further comparisons of clinical variables. Login to comment 23 ABCC7 p.Arg117His One patient with the R117H genotype was excluded because the other mutation was unknown. Login to comment 36 ABCC7 p.Arg117His ABCC7 p.Thr338Ile ABCC7 p.Arg117Cys The most frequent ones were T338I (5), R117C (3) and R117H (2), accounting for 2.2, 1.4and 0.9% of the C F alleles, respectively. Login to comment 38 ABCC7 p.Ser549Ile All but two of the patients had a 'severe' mutation (AF508, 394delTT or 3659delC) on the other chromosome, whereas one was homozygous for the S549I mutation, and one had an unknown mutation on the other allele. Login to comment 42 ABCC7 p.Thr338Ile Five patients from three unrelated families had the genotype T338I/AF508. Login to comment 51 ABCC7 p.Ser549Ile A 9-year-old girl was homozygous for the S549I mutation. Login to comment 55 ABCC7 p.Arg117His ABCC7 p.Arg117Cys Five patients had the relatively common R117H and R117C mutations with clinical pictures of mild or no lung symptoms, pancreatic sufficiency and male infertility as reported in several publications. Login to comment 56 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117Cys Four of the patients with the R117C or R117H mutations were heterozygous 7T/9T for the IVS8 polymorphism and one patient with R117H/unknown mutation was homozygous for the 7T allele. Login to comment 66 ABCC7 p.Thr338Ile ABCC7 p.Ser549Ile However, they differ with respect to the T338I and S549I mutations. Login to comment 67 ABCC7 p.Thr338Ile T3381, the substitution of isoleucine for threonine at position 338 of the CFTR protein, has previously been found only in patients of Sardinian descent (9-1 1). Login to comment 71 ABCC7 p.Thr338Ile The possibility that the variation in clinical severity in our patients could be explained by the presence of the 5T polymorphism on the T338I allele was ruled out. Login to comment 75 ABCC7 p.Ser549Ile The S549I mutation, first described in Arabs, was reported by Kerem et al. (12) to be associated with the pancreatic insufficient phenotype. Login to comment 83 ABCC7 p.Thr338Ile ABCC7 p.Ser549Ile In conclusion, our study extends clinical data for two CF gene deficiencies T338I and S549I. Login to comment