ABCMdb

PMID: 19318346

Goubau C, Wilschanski M, Skalicka V, Lebecque P, Southern KW, Sermet I, Munck A, Derichs N, Middleton PG, Hjelte L, Padoan R, Vasar M, De Boeck K
Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis.
Thorax. 2009 Aug;64(8):683-91. Epub 2009 Mar 23., [PubMed]

Sentences

No. Mutations Sentence Comment

53 ABCC7 p.Ser945Leu All five had the F508del mutation associated with S945L, a mutation considered as a class II mutation. Login to comment 60 ABCC7 p.Gly1244Glu ABCC7 p.Asp1270Asn ABCC7 p.Arg74Trp ABCC7 p.Arg352Gln ABCC7 p.Ser1235Arg ABCC7 p.Gly970Asp ABCC7 p.Phe1052Val ABCC7 p.Arg668Cys ABCC7 p.Ile336Lys ABCC7 p.Thr1246Ile ABCC7 p.Ser977Phe ABCC7 p.Leu165Ser ABCC7 p.Leu165Ser ABCC7 p.Leu165Ser ABCC7 p.Glu656* ABCC7 p.Gly551Arg ABCC7 p.Ser1235Glu ABCC7 p.Leu159Ser ABCC7 p.Leu159Ser ABCC7 p.Arg751Leu ABCC7 p.Gln1463His ABCC7 p.Ile105Asn ABCC7 p.Tyr913Ser ABCC7 p.Thr854Ala Table 2 CFTR mutations in the patient subgroups CF-PS CFTR dysfunction CF unlikely Genotype Subjects (n) Genotype Subjects (n) Genotype Subjects (n) F508del*/Not found 12 F508del*/3849+10 kb(C.T){ 11 Not found/Not found 39 Not found/Not found 10 F508del*/R117H{ 7 F508del*/Not found 4 F508del*/3849+10 kb(C.T){ 7 F508del*/Not found 7 IVS8-5T{/Not found 1 F508del*/R347P{ 5 Not found/Not found 5 S1235E/E528E 1 F508del*/R117H{ 4 F508del*/D1152H{ 4 No mutation analysis 1 F508del*/2789+5G.A{ 4 F508del*/IVS8-5T{ 4 Total 46 F508del*/S945L* 3 F508del*/S945L* 2 2789+5G.A{/Not found 3 W1282X*/IVS8-5T{ 2 F508del*/3272-26 A.G{ 2 F508del*/R1070W{ 1 F508del*/A455E{ 2 F508del*/L159S 1 F508del*/711+5G.A 2 F508del*/T1246I 1 F508del*/2789+5G.A 2 F508del*/L165S 1 G542X*/R334W{ 2 W1282X*/D1152H{ 1 F508del*/R334W{ 2 R1162X*/D1152H{ 1 R347P{/Not found 2 R347Hu/D1152H{ 1 F508del*/2116delCTAA 1 R553X*/R117H{ 1 F508del*/IVS8-5T{ 1 3659delC*/R117H{ 1 F508del*/D1152H{ 1 3849+10kb(C.T){/G551R 1 F508del*/711+3A.G 1 R1162X*/3849+10 kb(C.T){ 1 F508del*/L206W{ 1 2789+5G.A{/Not found 1 F508del*/I336K{ 1 G542X*/T854A 1 F508del*/G970D 1 R553X*/Q1463H 1 F508del*/L159S 1 S1235R/R668C 1 F508del*/R751L 1 2789+5G.A{/S977F 1 F508del*/E656X 1 No mutation analysis 1 F508del*/4015delA 1 Total 59 F508del*/Y913S 1 F508del*/L165S 1 F508del*/2143delT 1 G551D*/I336K{ 1 G551D*/3272-26A.G{ 1 G551D*/711+3A.G 1 R553X*/4005+2T.C 1 R553X*/E92K{ 1 G542X*/L206W{ 1 W1282X*/I336K 1 R1162X*/3849+10 kb(C.T){ 1 R1162X*/2789+5G.A{ 1 574delA*/3141del9 1 9890X/I105N 1 R334W{/R1070Q{ 1 3272-26A.G{/4218insT 1 3272-26A.G{/L165S 1 711+3A.G/G1244E 1 R352Q/1812-1G.A 1 F1052V/IVS8-5T{ 1 R74W/D1270N 1 1898-3G.A/1898-3G.A 1 1717-1G.A*/R334W{ 1 3659delC*/Not found 1 394delTT/Not found 1 R1162X*/Not found 1 R553X*/Not found 1 R117H{/Not found 1 G85E*/Not found 1 3849+10k(C.T){/Not found 1 Total 103 *Mutation class I, II or III. Login to comment 113 ABCC7 p.Arg117His CF-PI, sweat chloride concentration .60 mmol/l and pancreatic insufficiency; CF-PS, sweat chloride concentration .60 mmol/l and pancreatic sufficiency; CFTR dysfunction, sweat chloride concentration 30-60 mmol/l and two mutations identified and/or abnormal nasal potential difference (NPD); CF unlikely, patients with an intermediate sweat chloride concentration but no detection of two CFTR mutations and/or normal NPD; FEV1, forced expiratory volume in 1 s. restricted to patients with both NPD parameters abnormal and only accepting mutation R117H or 5T when associated with TG13 or TG12 (n = 45), the study conclusions that patients with CFTR dysfunction differ from patients with ''CF unlikely`` remain steadfast (see online supplement). Login to comment 116 ABCC7 p.Arg1162* When applying the recently published ''mutation guidelines``13 to our patient cohort with intermediate sweat chloride values, 12/59 patients would be called ''CF-PS`` and not ''CFTR dysfunction`` (ie, patients carrying 3849+10 kb C.T plus F508del (n = 11) or R1162X (n = 1)). Login to comment