ABCMdb

PMID: 9559222

De Braekeleer M, Allard C, Leblanc JP, Aubin G, Simard F
Correlation of sweat chloride concentration with genotypes in cystic fibrosis patients in Saguenay Lac-Saint-Jean, Quebec, Canada.
Clin Biochem. 1998 Feb;31(1):33-6., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Ala455Glu Results: CF patients carrying the A455E mutation, usually associated with pancreatic sufficiency, had lower sweat chloride concentrations than those carrying mutations associated with pancreatic insufficiency (⌬F508 and 621ϩ1G3T). Login to comment 25 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Three CFTR mutations account for 93.7% of the CF chromosomes; these are the ⌬F508 (63.4%), 621ϩ1G3T (22.3%), and A455E (8%) mutations. Login to comment 28 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu All the 114 CF patients in the present study had pancreatic insufficiency but 7 with a A455E/⌬F508 genotype, 2 with a A455E/621ϩ1G3T genotype and 1 with a R177C/A455E genotype who were pancreatic sufficient. Login to comment 38 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Patients with the A455E/⌬F508 or the 621ϩ1G3T/ A455E genotype had significantly lower chloride values than those homozygous for the ⌬F508 mutation (p Ͻ 0.05). Login to comment 39 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Patients with the A455E/DF508 or the 62111G3T/ A455E genotype had significantly lower chloride values than those homozygous for the DF508 mutation (p , 0.05). Login to comment 40 ABCC7 p.Ala455Glu A significant difference was also found between CF patients carrying the A455E mutation on one chromosome and the ⌬F508 or 621ϩ1G3T mutation on the other chromosome (p Ͻ 0.05). Login to comment 41 ABCC7 p.Ala455Glu ABCC7 p.Tyr1092* There were no significant differences in sweat chloride values between patients homozygous for the ⌬F508 mutation and those having a ⌬F508/ 621ϩ1G3T genotype or being hemizygous for the Y1092X or 711ϩ1G3T mutation (p Ͼ 0.05). Login to comment 42 ABCC7 p.Tyr1092* There were no significant differences in sweat chloride values between patients homozygous for the DF508 mutation and those having a DF508/ 62111G3T genotype or being hemizygous for the Y1092X or 71111G3T mutation (p . Login to comment 44 ABCC7 p.Ala455Glu It was the result of significant differences between the A455E group and the other two groups, ⌬F508 and 621ϩ1G3T (p Ͻ 0.05). Login to comment 45 ABCC7 p.Ala455Glu Patients were classified as hemizygous for the ⌬F508 mutation if the other chromosome did not carry the 621ϩ1G3T, nor the A455E mutation. Login to comment 46 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Patients carrying the A455E mutation on one chromosome were included in the A455E mutation category, independently of the second mutation. Login to comment 47 ABCC7 p.Ala455Glu Patients were classified as hemizygous for the DF508 mutation if the other chromosome did not carry the 62111G3T, nor the A455E mutation. Login to comment 48 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Tyr1092* Pancreatic insufficiency (PI) is obtained TABLE 1 Sweat Chloride Concentrations by Genotype or Mutation Among CF Patients in SLSJ Genotype No. of Patients Mean Chloride Concentration (mEq/L) (SD) Minimum Value (mEq/L) Maximum Value (mEq/L) ⌬F508/⌬F508 47 102.77 (8.43) 77 119 621ϩ1G3T/⌬F508 28 103.5 (7.4) 87 120 621ϩ1G3T/A455E 6 94.17 (10.87) 74 106 A455E/⌬F508 12 77.08 (18.48) 54 107 Y1092X/⌬F508 or 621ϩ1G3T 5 100.6 (11.67) 87 117 621ϩ1G3T/621ϩ1G3T 5 112.4 (2.97) 108 116 621ϩ1G3T/711ϩ1G3T 4 106.5 (4.12) 102 110 ⌬F508/other 3 102.33 (11.5) 91 114 Other/other 2 71 62 80 621-other 2 89.5 84 95 Mutation No. of Patients Mean Chloride Concentration (mEq/L) (SD) Minimum Value (mEq/L) Maximum Value (mEq/L) ⌬F508 54 102.28 (8.56) 77 119 621ϩ1G3T 40 104.55 (8.14) 84 120 A455E 19 81.68 (18.14) 54 107 when a CF patient has two 'severe` alleles with respect to the exocrine pancreatic function (⌬F508 being one of them). Login to comment 50 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Tyr1092* Pancreatic insufficiency (PI) is obtained TABLE 1 Sweat Chloride Concentrations by Genotype or Mutation Among CF Patients in SLSJ Genotype No. of Patients Mean Chloride Concentration (mEq/L) (SD) Minimum Value (mEq/L) Maximum Value (mEq/L) DF508/DF508 47 102.77 (8.43) 77 119 62111G3T/DF508 28 103.5 (7.4) 87 120 62111G3T/A455E 6 94.17 (10.87) 74 106 A455E/DF508 12 77.08 (18.48) 54 107 Y1092X/DF508 or 62111G3T 5 100.6 (11.67) 87 117 62111G3T/62111G3T 5 112.4 (2.97) 108 116 62111G3T/71111G3T 4 106.5 (4.12) 102 110 DF508/other 3 102.33 (11.5) 91 114 Other/other 2 71 62 80 621-other 2 89.5 84 95 Mutation No. of Patients Mean Chloride Concentration (mEq/L) (SD) Minimum Value (mEq/L) Maximum Value (mEq/L) DF508 54 102.28 (8.56) 77 119 62111G3T 40 104.55 (8.14) 84 120 A455E 19 81.68 (18.14) 54 107 when a CF patient has two 'severe` alleles with respect to the exocrine pancreatic function (DF508 being one of them). Login to comment 51 ABCC7 p.Ala455Glu However, the follow-up of CF patients with one mild allele (A455E) has shown that some PS patients may develop pancreatic insufficiency at a later stage of the disease (14). Login to comment 53 ABCC7 p.Ala455Glu However, the follow-up of CF patients with one mild allele (A455E) has shown that some PS patients may develop pancreatic insufficiency at a later stage of the disease (14). Login to comment 55 ABCC7 p.Tyr1092* In class I, there is no protein synthesis (e.g., Y1092X, 621ϩ1G3T, 711ϩ1G3T mutations). Login to comment 57 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys ABCC7 p.Gly85Glu ABCC7 p.Tyr1092* In class III, the CFTR protein reaches the cell membrane but is irresponsive to cAMP stimulation (e.g., G551D, N1303K, G85E mutations). Login to comment 58 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Arg347Pro ABCC7 p.Ser1251Asn Class IV mutations result in a reduction in the amount of chloride current (e.g., R117H, R347P, S1251N mutations) while class V mutations result in a reduction in the amount of a normally functioning CFTR protein (e.g., A455E, 3849ϩ10kbC3T mutations). Login to comment 59 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys ABCC7 p.Gly85Glu In class III, the CFTR protein reaches the cell membrane but is irresponsive to cAMP stimulation (e.g., G551D, N1303K, G85E mutations). Login to comment 60 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Arg347Pro ABCC7 p.Ser1251Asn Class IV mutations result in a reduction in the amount of chloride current (e.g., R117H, R347P, S1251N mutations) while class V mutations result in a reduction in the amount of a normally functioning CFTR protein (e.g., A455E, 3849110kbC3T mutations). Login to comment 65 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu It was the case for ⌬F508/⌬F508 versus 621ϩ1G3T/621ϩ1G3T or A455E/⌬F508 versus A455E/621ϩ1G3T. Login to comment 67 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu It was the case for DF508/DF508 versus 62111G3T/62111G3T or A455E/DF508 versus A455E/62111G3T. Login to comment 69 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* Simone Aubin, Claudette La- rochelle and Suzanne Mignault from the Clinique de TABLE 2 Distribution of the Mean Sweat Chloride Concentration by Genotype Genotype No. of CF Patients Mean Chloride Concentration (mmol/L) (SD) Pancreatic Status References G542X/⌬F508 128 109 (23) Pl 18 R553X/⌬F508 46 105 (18) Pl 18 N1303K/⌬F508 56 104 (24) Pl 18 W1282X/⌬F508 13 110 (18) Pl 18 1717-1G3A/⌬F508 26 107 (36) Pl 18 621ϩ1G3T/⌬F508 22 100 (20) Pl 18 R117H/⌬F508 20 82 (19) PS 18 ⌬F508/⌬F508 328 106 (22) Pl 18 3849ϩ10kb C3T/⌬F508 6 61 (11) PS 19 3849ϩ10kb C3T/⌬F508 9 41 (12) PS (6) 20 R347P/⌬F508 5 100 (26) Pl 21 R334W/⌬F508 10 108 (19) Pl (6) 22 1811ϩ1.6kb A3C/⌬F508a 17 98 (12) Pl 23 3905insT/⌬F508 7 124 Pl 24 W1282X/W1282X 16 113 (12) Pl 25 W1282X/⌬F508 22 109 (11) Pl 25 G551D/⌬F508 58 101 (16) Pl 26 R1162X/R1162X 9 99 (13) Pl 27 1949del84/⌬F508 4 105 (20) Pl 28 ⌬F508/⌬F508 47 103 (8) Pl This study 621ϩ1G3T/⌬F508 28 103 (7) Pl This study 621ϩ1G3T/A455E 6 94 (11) Pl/PS This study A455E/⌬F508 12 77 (18) Pl/PS This study a Or other 'severe` mutations. Login to comment 71 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* Simone Aubin, Claudette Larochelle and Suzanne Mignault from the Clinique de TABLE 2 Distribution of the Mean Sweat Chloride Concentration by Genotype Genotype No. of CF Patients Mean Chloride Concentration (mmol/L) (SD) Pancreatic Status References G542X/DF508 128 109 (23) Pl 18 R553X/DF508 46 105 (18) Pl 18 N1303K/DF508 56 104 (24) Pl 18 W1282X/DF508 13 110 (18) Pl 18 1717-1G3A/DF508 26 107 (36) Pl 18 62111G3T/DF508 22 100 (20) Pl 18 R117H/DF508 20 82 (19) PS 18 DF508/DF508 328 106 (22) Pl 18 3849110kb C3T/DF508 6 61 (11) PS 19 3849110kb C3T/DF508 9 41 (12) PS (6) 20 R347P/DF508 5 100 (26) Pl 21 R334W/DF508 10 108 (19) Pl (6) 22 181111.6kb A3C/DF508a 17 98 (12) Pl 23 3905insT/DF508 7 124 Pl 24 W1282X/W1282X 16 113 (12) Pl 25 W1282X/DF508 22 109 (11) Pl 25 G551D/DF508 58 101 (16) Pl 26 R1162X/R1162X 9 99 (13) Pl 27 1949del84/DF508 4 105 (20) Pl 28 DF508/DF508 47 103 (8) Pl This study 62111G3T/DF508 28 103 (7) Pl This study 62111G3T/A455E 6 94 (11) Pl/PS This study A455E/DF508 12 77 (18) Pl/PS This study a Or other 'severe` mutations. 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