ABCMdb

PMID: 9196095

Kerem E, Rave-Harel N, Augarten A, Madgar I, Nissim-Rafinia M, Yahav Y, Goshen R, Bentur L, Rivlin J, Aviram M, Genem A, Chiba-Falek O, Kraemer MR, Simon A, Branski D, Kerem B
A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.
Am J Respir Crit Care Med. 1997 Jun;155(6):1914-20., [PubMed]

Sentences

No. Mutations Sentence Comment

51 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly85Glu ABCC7 p.Asp1152His ABCC7 p.Trp1089* In cases in which family members were not available, the assignment was performed by the complete correlation between the 9T allele and the AF508 and the N1303K, and between the 7T allele and the W1282X, G85E, D1152H, and W1089X mutations. Login to comment 70 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly85Glu ABCC7 p.Asp1152His The frequency of the 5T allele among normal chromosomes was significantly lower than its frequency among chromosomes carried by CF patients and patients with atypical TABLE 1 MUTATIONS AND POLYTHYMIDINE VARIANTS ON THE OTHER CHROMOSOME OF UNRELATED PATIENTS WITH 5T ALLELE Mutation CF and Atypical CF CBAVD Total AF508 4 8 12 W1282X 1 6 7 N1303K 0 2 2 G85E 1 1 2 D1152H 1 0 1 W 1089X 1 0 1 G542X 0 1 1 ST 0 3 3 7T' 7 9 16 9T* 2 2 4 Total 17 32 49 Definition of abbreviations: CF = cystic fibrosis; CBAVD = congenital bilateral aplasia of the vas deferens. Login to comment 105 ABCC7 p.Gly85Glu Haplotype analysis of nine polymorphic sites spanning the CFTR locus from XV2C 5' upstream to the gene to W30 3' downstream to the gene, revealed that as expected, these patients carry the same 5T allele identical by descent determined by the haplotype C,1,1,2,3,1,2,12 and the same G85E allele determined by the haplotype C,1,2,1,6,1,2,5. Login to comment 107 ABCC7 p.Gly85Glu One was the 36-yr-old healthy father (FEVI , 88% predicted) of a child with CF and the G85E/5T genotype with normal sweat Cl- level. Login to comment 108 ABCC7 p.Gly85Glu The second (Patient 13 in Table 3) had nasal and sinopulmonary disease typical of CF and carried the G85E/5T genotype. Login to comment 109 ABCC7 p.Gly85Glu The additional three relatives were infertile male patients with CBAVD who were otherwise healthy and carried the genotypes G85E/5T, 5T/5T, and 5T/unidentified mutation. Login to comment 121 ABCC7 p.Trp1089* Diagnosis (yr) (yr) (mmol/L) PI MI Polyps Sinus ectasis Culture (% pred) Fertility Genotype Comments 1 CF F/9 0 110 + + - + + H flu 77 5T/W1089X 2 CF F/20 0.25 118 + - - + + PSA 43 5T/AF508 3 CF M/1 3 0.5 ND + - - + - H flu 108 ST/ Infantile asthma resolved at 5 yr of age. Login to comment 137 ABCC7 p.Gly85Glu 13 Nasopulmonary M/1 7 0.5 52 - - + + + H flu + 40 5T/G85E Chronic cough not S. pneumoniae responding to antiasthma medications. Login to comment 143 ABCC7 p.Trp1282* 16 Pneumonia F/3 1.5 71 - - - - - NF ND 5T/W1282X 17 Bronchiectasis M/28 0.5 32 - - + + + NF 28 Fertile 5T/ Recurrent pneumonia since age 6 mo of age. Login to comment