ABCMdb

PMID: 16840743

Wilschanski M, Dupuis A, Ellis L, Jarvi K, Zielenski J, Tullis E, Martin S, Corey M, Tsui LC, Durie P
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
Am J Respir Crit Care Med. 2006 Oct 1;174(7):787-94. Epub 2006 Jul 13., 2006-10-01 [PubMed]

Sentences

No. Mutations Sentence Comment

54 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Asp979Ala ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg117Cys ABCC7 p.Arg117Cys ABCC7 p.Asp110His ABCC7 p.Ala198Pro ABCC7 p.Ser431Gly CFTR GENE MUTATIONS IN THE PATIENT GROUPS Control Subjects (n ϭ 31) Heterozygotes (n ϭ 21) CBAVD-1 (n ϭ 18) CBAVD-2 (n ϭ 36) CF-PS (n ϭ 24) CF-PI (n ϭ 26) G542X*/R75Q ⌬F508*/- (n ϭ 16) ⌬F508* (n ϭ 6) ⌬F508*/2789ϩ5G→A* ⌬F508*/R117H [5T]* (n ϭ 4) ⌬F508*/⌬F508* (n ϭ 11) ⌬F508* ⌬F508*/5T W1282X*/5T (n ϭ 8) R334W*/R334W* ⌬F508*/A455E* (n ϭ 2) ⌬F508*/G542X* (n ϭ 2) G542X* W1282X*/- (n ϭ 2) D1152H† ⌬F508*/R117H [7T] (n ϭ 10) ⌬F508*/3849ϩ10kbC→T* (n ϭ 2) ⌬F508*/G551D* (n ϭ 2) R117H[7T] G85E† /R75Q L206W† ⌬F508*/R117C [7T] G551D*/3849ϩ10kbC→T* ⌬F508*/621ϩ1G→T* (n ϭ 2) S431G R75Q/- A198P G551D*/R117H [7T] ⌬F508*/3272-26A→G† (n ϭ 2) ⌬F508*/2789ϩ5 G→A* 5T ⌬F508*/5T (n ϭ 8) ⌬F508*/P574H† (n ϭ 2) ⌬F508*/W1282X* G542X*/5T ⌬F508*/I1234V† ⌬F508*/G85E* W1282X*/5T ⌬F508*/P67L† ⌬F508*/L1077P† (n ϭ 2) ⌬F508*/P67L† ⌬F508*/R347H† G551D*/G480C† ⌬F508*/L206W† ⌬F508*/5T ⌬F508*/- (n ϭ 2) ⌬F508*/M952T† ⌬F508*/875ϩ1G→C† -/- ⌬F508*/S549R† G551D*/R75Q A455E*/L206W† ⌬F508*/- (n ϭ 2) 621ϩG→T*/R117C [7T] A455E*/- R117H [7T]/5T ⌬I507*/- R117L[7T]/5T -/- R117H/R117H [7T/7T] D979A/5T 5T/-741T→G 4016insT† /D110H Definition of abbreviations: CBAVD ϭ congenital bilateral absence of the vas deferens; CF-PI ϭ pancreatic-insufficient cystic fibrosis; CF-PS ϭ pancreatic-sufficient cystic fibrosis. Login to comment 58 ABCC7 p.Arg75Gln The clinical significance of one of his mutations (R75Q) remains uncertain. Login to comment 68 ABCC7 p.Ser549Arg One exception, a man in the CBAVD-2 group, carried ⌬F508 with a rare missense mutation (S549R), which has been observed in a CF-PI patient (35). Login to comment 71 ABCC7 p.Pro67Leu Only two individuals in the CF-PS and CBAVD-2 groups carried a combination of the same mutations on both alleles (⌬F508/P67L). Login to comment 74 ABCC7 p.Arg117His ABCC7 p.Arg117His * Results not available for six men (CBAVD-1 [n ϭ 3], CBAVD-2 [n ϭ 3]), because the DNA was denatured. patients with CBAVD carrying the R117H allele cosegregated with the 7T variant, whereas the R117H allele was associated with the 5T variant in all four CF-PS patients. Login to comment 160 ABCC7 p.Arg117His ABCC7 p.Arg117His For example, the 7T variant, which allows more efficient splicing than 5T, was associated with the mild missense R117H mutation in all men with CBAVD, whereas R117H was associated with the less-efficient 5T splice variant in all the CF-PS patients (41). Login to comment