ABCMdb

PMID: 12138064

Blau H, Freud E, Mussaffi H, Werner M, Konen O, Rathaus V
Urogenital abnormalities in male children with cystic fibrosis.
Arch Dis Child. 2002 Aug;87(2):135-8., [PubMed]

Sentences

No. Mutations Sentence Comment

264 ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Ser549Arg Seven of these were homozygous or compound heterozygotes for the genotypes ∆F508, W1282X, G542X, S549R, and 405+1G→A. Login to comment 294 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Ser549Arg ABCC7 p.Ser549Arg The vas deferens appeared similar to Table 1 Genotype and clinical features in pancreatic insufficient boys Pt no. Age (y) Sweat chloride CFTR mutations FEV1 Wt Ht Sh. score 1 2 69 W1282X/405+1G→A - 3 3 77 2 3 100 W1282X/W1282X 98% 50 75 92 3 5 78 Unknown 94% 50 10 92 4 6 75 Unknown 86% 50 25 85 5 7 76 W1282X/G542X 105% 95 40 90 6 8 99 W1282X/∆F508 112% 85 50 98 7 9 90 S549R/S549R 77% 25 10 70 8 10 84 W1282X/∆F508 102% 25 20 89 9 10 97 W1282X/∆F508 87% 50 50 98 FEV1, forced expiratory volume in 1 second; Wt , weight, percentile for age; Ht, height, percentile for age; Sh. score, Shwachman score. Login to comment 295 ABCC7 p.Trp1282* Table 2 Genotype and clinical features in pancreatic sufficient boys Pt no. Age (y) Sweat chloride CFTR mutations FEV1 Wt Ht Sh. score 10 5 45 ∆F508/3849+10kb C→T 106% 50 28 95 11 7 107 ∆F508/unknown 85% 10 20 84 12 12 44 W1282X/5T 115% 75 65 100 FEV1, forced expiratory volume in 1 second; Wt , weight, percentile for age; Ht, height, percentile for age; Sh. score, Shwachman score. Login to comment