ABCMdb

PMID: 9541118

De Braekeleer M, Allard C, Leblanc JP, Aubin G, Simard F
Is meconium ileus genetically determined or associated with a more severe evolution of cystic fibrosis?
J Med Genet. 1998 Mar;35(3):262-3., [PubMed]

Sentences

No. Mutations Sentence Comment

16 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ile148Thr ABCC7 p.Gly85Glu ABCC7 p.Tyr1092* ABCC7 p.Tyr1092* ABCC7 p.Arg117Cys ABCC7 p.Ser489* ABCC7 p.Gln890* Although the A455E mutation is Table 1 Distribution of meconium ileus among CFTR genotypes in Saguenay Lac-Saint-Jean No of CF Proportion No of CFpatients Proportion Proportion ofMI Genotypes patients (%) with meconium ileus (%) among genotypes AF508/AF508 52 39.4 5 26.3 9.6 AF508/621+G-*T 34 25.8 9 47.4 26.5 AF508/A455E 14 10.6 0 0.0 0.0 621+1G-*T/A455E 8 6.1 0 0.0 0.0 621+1G-*T/G85E 2 1.5 1 5.3 50.0 621+1G-*T/Y1092X 1 0.8 0 0.0 0.0 AF508/Y1092X 4 3.0 1 5.3 25.0 A455E/R117C 1 0.8 0 0.0 0.0 AF508/I148T 2 1.5 0 0.0 0.0 621+1G-*T/ 4 3.0 0 0.0 0.0 711 +1G-*T 621+1G-4T/S489X 1 0.8 0 0.0 0.0 AF508/Q890X 1 0.8 1 5.3 100.0 621+1G->T/ 6 4.5 2 10.5 33.3 621+1G-sT AF508/unknown 1 0.8 1 5.3 100.0 Unknown/unknown 1 0.8 0 0.0 0.0 Table 2 Main clinicalfindings in patients with meconium ileus With MI Without MI p value No of patients 18 18 Sex (M/IF) 6/12 6/12 No of patients alive 16 17 Mean age (SD) 16.75 (9.7) 16.70 (7.9) p=0.99 Mean birth weight (SD) 3.24 (0.40) 3.02 (0.47) p=O.18 Mean birth height (SD) 50.0 (2.27) 50.0 (2.58) p=0.86 Currentweightcentile (SD) 26.7 (24.5) 14.1 (18.0) p=0.06 Current height centile (SD) 29.9 (25.1) 20.6 (25.6) p=0.33 Sweat chloride concentration (mEq/l) 105.9 (6.5) 101.1 (9.8) p=O.12 Mean FVC (SD) 89.7 (24.4) 93.0 (17.0) p=0.75 Mean FEV (SD) 73.1 (23.9) 75.4 (18.7) p=0.81 Mean Shwachman score (SD) 82.8 (11.8) 79.2 (12.6) p=0.36 Colonisation with Pseudomonas aeruginosa 13 14 p=0.70 Staphyloccoccus aureus 16 17 p=0.55 Haemophilus influenzae 13 14 p=0.70 Pseudomonas maltophilia 4 6 p=0.46 Pseudomonas cepacia 0 1 Pancreatic insufficiency 18 18 DIOS 7 1 p=0.016 Rectal prolapse 1 2 p=0.55 Recurrent abdominal pain 6 1 p=0.035 Diabetes mellitus 5 0 p=0.016 Liver complications 3* 0 p=0.07 Nasal polyposis 6 6 p=1.00 DIOS=distal intestinal obstruction syndrome. Login to comment 18 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu considered to be a "mild" mutation, 13 ofthe 22 patients from SLSJ carrying a AF508/ A455E or a 621+1G-4T/A455E genotype had PI.5 However, none ofthem had MI. Login to comment 51 ABCC7 p.Ala455Glu 5 De Braekeleer M, Allard C, Leblanc JP, Simard F, Aubin G. Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation. Login to comment 52 ABCC7 p.Ala455Glu 5 De Braekeleer M, Allard C, Leblanc JP, Simard F, Aubin G. Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation. Login to comment 54 ABCC7 p.Gly85Glu Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621+1G-*T mutations. Clin Genet 1995;47: 110-11. Login to comment 55 ABCC7 p.Gly85Glu Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621+1G-*T mutations. Clin Genet 1995;47: 110-11. Login to comment