ABCMdb

PMID: 8697849

Colin AA, Sawyer SM, Mickle JE, Oates RD, Milunsky A, Amos JA
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens.
Chest. 1996 Aug;110(2):440-5., [PubMed]

Sentences

No. Mutations Sentence Comment

38 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Gln493* ABCC7 p.Asp1152His His stool description Table 1.Age, Sweat Sodium and Chloride Concentration and Ratio, and Genotype Subject/Age, yr Symptoms Sweat Na+: mEq/L Sweat Cl mEq/L Na:Cl Ratio CFTR Genotype Polythymidine Splice Variant l*/32 2*/27 3f/30 4/23 5*/22 6*/31 7*/37 8/30 9/41 10/31 11/31 12/38 13/40 14/32 15/31 16/43 17/40 18/27 Asthma Malabsorption Bronchitis Asthma 100 39 53 37 36 36 26 46 42 35 83 74 44 44 44 28 21 106 80 37 51 35 34 34 24 45 43 32 79 75 46 44 40 32 22 0.94 1.05 1.03 1.06 1.05 1.05 1.08 1.00 0.98 1.09 1.05 0.99 0.96 1.00 1.10 0.90 0.95 AF508/R117H AF508/R117H AF508/- AF508/- AF508/- AF508/- AF508/- R117H/- Q493X/- AF508/- AF508/- AF508/R117H G551D/R117H G551D/D1152H AF508/- G542X/- R117H/- -/- 7/9 7/9 5/9 5/9 7/7 7/9 7/9 NT$ 7/7 NT NT 7/9 7/7 7/7 5/9 5/9 7/7 5/9 * Subject 1 and 2 are brothers. Login to comment 82 ABCC7 p.Arg117His The low frequency and absence of homozygosity in this cohort probably reflects the severe phenotypicnature, with respect to the pancreas of this mutation.20 The R117H mutation accounted for 16% of the alleles found in this cohort. Login to comment 84 ABCC7 p.Arg117His ABCC7 p.Arg117His The milder phenotype associ&#ac; ated with R117H can be understood by the paradigm suggested by Welsh and Smith.23 According to this schema, R117H belongs to the class 4 mutations in which mutant CFTRs are correctly expressed, are present in the apical membrane, and generate cyclic adenosine monophosphate-regulated apical mem&#ac; brane currents, but there is defective conduction as a result of mutations in the membrane-spanning do&#ac; main. Login to comment 86 ABCC7 p.Arg117His However, such specula&#ac; tion is not supported by Osborne et al15 who did not describe a higher than expected frequency of the R117H mutation in their study population. Login to comment