ABCMdb

PMID: 7551394

Friedman KJ, Teichtahl H, De Kretser DM, Temple-Smith P, Southwick GJ, Silverman LM, Highsmith WE Jr, Boucher RC, Knowles MR
Screening Young syndrome patients for CFTR mutations.
Am J Respir Crit Care Med. 1995 Oct;152(4 Pt 1):1353-7., [PubMed]

Sentences

No. Mutations Sentence Comment

78 ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly551Ser ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Arg347Leu ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Asp1270Asn ABCC7 p.Arg352Gln ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr ABCC7 p.Pro67Leu ABCC7 p.Leu1065Pro ABCC7 p.Ser945Leu ABCC7 p.Gly91Arg ABCC7 p.Arg297Gln ABCC7 p.Tyr563Asn ABCC7 p.Gln1291His ABCC7 p.Phe1286Ser Of the 13 Young syndrome patients, we identified one (Patient 5) who was het- CBAVD Dl152H D1270N G576A* R75Q* P67L Rl17H 3849 + 10 KB C > T G551S Rl17H Pancreatic Sufficient, Moderate Pulmonary Symptoms, Normal Sweat Chloride Concentrations Pancreatic Sufficient, Moderate Pulmonary Symptoms R347P 2789 + 5 G > A R334W G85E R347H R347L Rl17H G91R A455E S945L Y563N Q1291H R297Q R352Q L1065P 3850-3 T > G F1286S 3849 + 10 KB C > T TABLE 1 CFTR MUTATION SCREENING PANEL Severe M508 G551D R553X N1303K W1282X G542X 1717-1 G > A ~1507 R560T 3659deiC 621 + 1 G > T S549N TABLE 2 CLINICAL FEATURES OF YOUNG SYNDROME PATIENTS Patient Age Sweat CI- FEV, Paranasal Sputum No. Login to comment 83 ABCC7 p.Arg75Gln Patient 2 was determined to be heterozygous for R75Q, a sequence variation in exon 3 that has been reported as a CFTR mutation (1S). Login to comment 85 ABCC7 p.Arg75Gln Briefly, we found three of 74 known AF50S-carrier fathers carrying the R75Q allele on the opposite chromosome. Login to comment 86 ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln If R75Q were a disease-causing mutation, the AF50S/R75Q genotype would have elicited symptoms of CF, precluded fertility, or both, in these men. Login to comment