ABCMdb

PMID: 15151509

Casals T, De-Gracia J, Gallego M, Dorca J, Rodriguez-Sanchon B, Ramos MD, Gimenez J, Cistero-Bahima A, Olveira C, Estivill X
Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?
Clin Genet. 2004 Jun;65(6):490-5., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Gly542* One stop mutation (G542X) and one splice-site mutation (2789þ 5G> A) were detected in two other patients. Login to comment 61 ABCC7 p.Gly1237Ser Among the 11 missense mutations, the (G1237S) a G > A substitution at nucleotide 3841 is reported for the first time and was detected in two sibs, the brother presenting with oligozoospermia. Login to comment 73 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala Exceptions are the missense mutations G576A and R668C which occur on the same allele (26). Login to comment 81 ABCC7 p.Gly542* ABCC7 p.Arg75Gln ABCC7 p.Arg668Cys ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala Table2.ClinicalfeaturesandCFTRgenotypesfoundin20adultpatientswithbronchiectasis SampleSex/age Ageonset (years) FEV1/FVC (%predicted) Bacterial colonization Sweattest (mEq/l) Lobes affected Clinical features FirstCFTR change Second CFTRchangeM470V 1M/41520/43P30a >4-F508delL997FM/V 2F/231785/89P,S46a >4SN,ABPA,PNF508del-M/M 3F/24160/74P,S49a >4SN,PNF508del-M/V 4M/55-87/84S32a 2-F508del-M/V 5c F/372991/93S41a >4PNF508del-M/V 6F/333286/84No51a 2-G542X-M/M 7F/306101/112No56a >4-2789þ5G>A5T-12TGM/V 8F/3815106/104No29a 2OtitisS1235R-M/V 9F/34Birth75/100H20a >4SNV562L5T-11TGM/V 10d F/36530/51P20a >4SN,PNG1237S-M/V 11d M/401473/92H26a 3SN,PN,OZG1237S-M/V 12F/23541/47S23a >4HemoptysisR347HR75QV/V 13F/68548/52No34a >4PNY1014C5T-12TGV/V 14M/643088/84H39a 2-R75Q-M/V 15M/40Childhood56/79No33b >4SN,asthmaV754M-M/M 16M/474594/108No19a 2SN,PNQ179K-M/V 17M/23Childhood38/34No28a 2SN,PN5T-12TG5T-11TGM/V 18F/695068/89S52a 4DiabetesG576A,R668C-M/V 19F/47Childhood16/18P64b >4-G576A,R668C-M/V 20F/38672/88No39b >4SN,ABPA,asthma1716G/A-M/M M,male;F,female;FEV1,forcedexpiratoryvolumein1s(%ofpredictedvalueforheight);FVC,forcedvitalcapacity(%ofpredictedvalueforheight);P,Pseudomonas aeruginosa;H,Haemophilusinfluenza;S,Staphylococcusaureus;SN,sinusitis;ABPA,allergicbronchopulmonaryaspergillosis;PN,pneumonia;OZ,oligozoospermia. Login to comment 94 ABCC7 p.Gly542* Among the common mutations reported in Spanish CF families (19), only three were detected in the bronchiectasis group (F508del, G542X, 2789 þ 5G> A). Login to comment 107 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala However, a recent study (28) has showed that the G576A change leads to exon 12 skipping and an increase of aberrant transcripts when the R668C change in exon 13 is also present. Login to comment