ABCMdb

PMID: 17020467

Giannattasio S, Bobba A, Jurgelevicius V, Vacca RA, Lattanzio P, Merafina RS, Utkus A, Kucinskas V, Marra E
Molecular basis of cystic fibrosis in Lithuania: incomplete CFTR mutation detection by PCR-based screening protocols.
Genet Test. 2006 Fall;10(3):169-73., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Arg75Gln ABCC7 p.Gly314Arg Seven CFTR mutations, p.N1303K (2.0%), p.R75Q (1.0%), p.G314R (1.0%), p.R553X (4.2%), p.W1282X (1.0%), and g.3944delGT (1.0%), accounted for 10.1% of Lithuanian CF chromosomes. Login to comment 32 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Arg75Gln ABCC7 p.Gly314Arg The following CFTR mutations were found: p.N1303K (2.0%), p.R75Q (1.0%), p.G314R (1.0%), p.R553X (4.2%), p.W1282X (1.0%), and g.3944delGT (1.0%). Login to comment 33 ABCC7 p.Asn1303Lys ABCC7 p.Arg75Gln All of these mutations were found in compound heterozygosity with p.F508del, except in the case of one p.N1303K and the p.R75Q alleles, whose associated mutant alleles were not identified through DGGE analysis (Table 2). Login to comment 46 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Arg75Gln ABCC7 p.Gly314Arg CFTR GENE MUTATIONS IDENTIFIED BY PCR SCREENING METHODS IN 98 UNRELATED LITHUANIAN CF CHROMOSOMES Number of chromosomes CFTR allele (relative frequency) p.F508del 51 (52.0%) p.R553X 4 (4.2%) p.N1303K 2 (2.0%) CFTRdele2,3(21kb)a 2 (2.0%) p.R75Q 1 (1.0%) p.G314R 1 (1.0%) p.W1282X 1 (1.0%) g.3944delGT 1 (1.0%) Uncharacterized 35 (35.8%) Total 98 (100%) aDork et al. 2000. Login to comment 52 ABCC7 p.Arg75Gln Among these, R75Q is actually a variant of uncertain significance. Login to comment 53 ABCC7 p.Arg75Gln Although its effect on CFTR protein structure and function has not yet been investigated, recent evidence suggests that, even if it has been found to occur with a similar frequency in random healthy control donors as well as in affected subjects (Cohn et al. 2005), R75Q might be reclassified as an uncommon mutation causing a variable phenotype. Login to comment 55 ABCC7 p.Arg75Gln Thus, it cannot be excluded that the R75Q mutation may contribute, in cooperation with other CFTR gene defects, to the CF phenotype. Login to comment 60 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Arg75Gln ABCC7 p.Gly314Arg CFTR GENOTYPE CHARACTERIZED IN 32 NON-p.F508del HOMOZYGOTE LITHUANIAN CF PATIENTS Patient CFTR mutationa (TG)ma Tna M470V 1 F508del/R553X 10/10 9/7 MM 2 F508del/R553X 10/12 9/7 VV 3 F508del/R553X 10/10 9/7 VV 4 F508del/R553X 10/10 9/7 VV 5 F508del/3944delGT 10/11 9/7 VV 6 F508del/W1282X 10/10 9/7 VV 7 F508del/G314R 10/12 9/7 MV 8 F508del/N1303K 10/11 9/7 MV 9 F508del/CFTRdele2,3(21kb) 10/11 9/7 MV 10 F508del/CFTRdele2,3(21kb) 10/11 9/7 MV 11 F508del/- 10/10 9/7 VV 12 F508del/- 10/11 9/7 MV 13 F508del/- 10/10 9/7 VV 14 F508del/- 10/10 9/9 VV 15 F508del/- 10/10 7/7 MV 16 F508del/- 10/11 9/7 MV 17 F508del/- 10/10 9/7 VV 18 N1303K/- 10/10 7/7 MM 19 R75Q/- 10/11 7/7 MV 20 -/- 11/11 7/7 VV 21 -/- 10/12 7/7 MM 22 -/- 11/11 9/7 MV 23 -/- 11/11 7/7 MV 24 -/- 10/10 7/7 MV 25 -/- 10/12 9/7 MV 26 -/- 10/11 7/7 MM 27 -/- 11/11 9/7 VV 28 -/- 12/12 7/7 MV 29 -/- 11/11 9/9 MM 30 -/- 10/11 9/9 MV 31 -/- 11/11 5/7 MV 32 -/- 10/11 9/9 MM aFor each patient, (TG)m and Tn alleles are indicated in phase with each other but not with CFTR mutations identified. Login to comment