ABCMdb

PMID: 11897640

Lebecque P, Leal T, De Boeck C, Jaspers M, Cuppens H, Cassiman JJ
Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children.
Am J Respir Crit Care Med. 2002 Mar 15;165(6):757-61., 2002-03-15 [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCC7 p.Gly576Ala ABCC7 p.Leu165Ser Three subjects were found to be heterozygotes, carriers of a single mutation (⌬F508, L165S, and G576A). Login to comment 69 ABCC7 p.Ala455Glu In the latter study, however, data are likely influenced by the frequency of the A455E mutation in the Dutch population. Login to comment 75 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Arg117Cys ABCC7 p.Arg117Cys ABCC7 p.Arg117Cys ABCC7 p.Arg117Cys ABCC7 p.Ser977Phe ABCC7 p.Ser977Phe Age at First Sweat Test (yr) Clin Sweat (mM) Nasal Potential (mV) Bacteriology (Throat Swab or Sputum Culture) GenotypePDmax ⌬Iso ϩ Cl-free 1 2.5 34 -15 -7* Staphylococcus aureus ⌬F508/D1152H 2 2.8 36 -21 -10 - ⌬F508/R117H, 7T 3 0.3 33 ND ND - ⌬F508/R117H, 7T 4 0.7 43 -51* -7* S. aureus S977F, 5T/2789 ϩ 5G→A 5 0.1 39 -16 -4* Haemophilus influenzae, S. aureus ⌬F508/R117C 6 0.1 37 -48* -9* H. influenzae, S. aureus ⌬F508/R117C 7 0.7 48 -15 -12 Pseudomonas aeruginosa, S. aureus R553X/R117H, 7T 8 6 34 -30 -10 H. influenzae 5T/5T 9 7 45 -24 -15 S. aureus ⌬F508/S1235R 10 9.5 45 -47* -11 P. aeruginosa ⌬F508/D1152H Definition of abbreviations: PDmax ϭ maximum basal nasal potential difference; ⌬Iso ϩ Cl-free ϭ cumulative change in PD after perfusion with chloride-free solution plus isoproterenol in the presence of amiloride. Login to comment 77 ABCC7 p.Arg117His ABCC7 p.Gly551Ser ABCC7 p.Arg347His ABCC7 p.Asp1152His ABCC7 p.Arg117Cys C→T (6-9), R347H (12), G551S (13), D1152H (14), R117H (15, 16), and R117C (17) mutations. Login to comment 86 ABCC7 p.Arg117Cys ABCC7 p.Ser977Phe Data on the R117C mutation (Subjects 5 and 6 are twin sisters) and the S977F mutations (Subject 4) are limited but suggest that a mild form of the disease is associated with the former (27). Login to comment 87 ABCC7 p.Asp1152His D1152H is a common mutation in men with congenital bilateral aplasia of the vas deferens (CBAVD) (28-31). Login to comment 91 ABCC7 p.Arg117His Two of them are carrying a classic CFTR mutation on one gene and the R117H mutation on a 7T background on the other (Subjects 2 and 7). Login to comment 93 ABCC7 p.Arg117His According to the consensus panel (18), this combination (R117H-7T) does not meet the criteria for a CF-causing mutation and a demonstration of CFTR abnormality by sweat testing or nasal PD testing is required to support a diagnosis of CF in such cases. Login to comment 96 ABCC7 p.Ser1235Arg Little is known about the S1235R mutation (Subject 9) (35, 36). Login to comment