ABCMdb

PMID: 9719631

Liang MH, Wertz KK, Bowman CM, Hsu E, Shapiro B, Wong LJ
3849 + 10 kb C --> T splicing mutation in Hispanic CF patients.
Mol Genet Metab. 1998 Jul;64(3):213-6., [PubMed]

Sentences

No. Mutations Sentence Comment

31 ABCC7 p.Gly85Glu GM982710 213 1096-7192/98 $25.00 Copyright (c) 1998 by Academic Press All rights of reproduction in any form reserved. RESULTS AND DISCUSSION Seven of the 152 patients were compound heterozygous for the 3849 1 10 kb C 3 T mutation with four DF508, one G85E, and two unidentified mutations on the other chromosome. Login to comment 32 ABCC7 p.Gly85Glu RESULTS AND DISCUSSION Seven of the 152 patients were compound heterozygous for the 3849 ϩ 10 kb C 3 T mutation with four ⌬F508, one G85E, and two unidentified mutations on the other chromosome. Login to comment 40 ABCC7 p.Gly85Glu : 1 2 3 4 5 6 7 Sex (M/F) F F M M M F M Genotype 3849 1 10kb/ unknown 3849 1 10kb/ unknown 3849 1 10kb/ G85E 3849 1 10kb/ DF508 3849 1 10kb/ DF508 3849 1 10kb/ DF508 3849 1 10kb/ DF508 Ethnicity Hispanic Hispanic Hispanic Hispanic Caucasian Hispanic Caucasian Age/age @ diagnosis (years, months) 6.5/3 10/3,11 23/1 7/11 month 44/16.5 10/6,8 46.5/27 Sweat chloridea (mmol/liter) 52 72 53 86 84 55 47 FEV1 b (%)/ Unavailable 67/6 29/17 Unavailable 20/38.5 96/6.5 51/42.5 age (years) Unavailable 64/8 33/21 Unavailable 16/40.5 94/10 46/46 FVCc (%)/ Unavailable 86/6 54/17 Unavailable 42/38.5 110/6.5 71/42.5 age (years) Unavailable 90/8 71/21 Unavailable 41/40.5 103/10 71/46 FEV1/FVCd Unavailable 0.78/6 0.54/17 Unavailable 0.48/38.5 0.87/6.5 0.72/42.5 age (years) Unavailable 0.71/8 0.46/21 Unavailable 0.39/40.5 0.91/10 0.65/46 Pancreatic statuse PI PI PS PS PS PS PS Height (%)/Weight (%)f 35/25/2 70/50/4 ,5/,5/17 45/25/14 months 35/,5/29 75/75/6, 5 55/,5/42, 7 Age (years, months) 10/,5/6 35/55/8, 9 ,5/,5/22 .95/.95/3, 3 35/.5/40, 7 80/85/10, 2 55/,5/45 Microbiological colonizationg a/mucoid a/mucoid, c a/mucoid a a/mucoid, c a, b a/mucoid Other clinical features Lobar atelectasis Lobectomy (2.5 years) Bronchiectasis Pancrease MT16e Malnutrition Chronic cough Bronchiectasis Ultrase 12e On lung transplant list No known children Pneumonia Pancreasee stopped Hyponatremia Dehydration Lung transplant (43 years) Two children Pneumonia Nasal polyps Chronic cough Sinus Surgery Repeat pancreatitis Pneumonia Decreased sperm count Nasal polyps Gallbladder removed (25 years) Appendectomy (teenage) No known children a Sweat test, concentrations of Cl in mmol/L. Login to comment 41 ABCC7 p.Gly85Glu : 1 2 3 4 5 6 7 Sex (M/F) F F M M M F M Genotype 3849 ϩ 10kb/ unknown 3849 ϩ 10kb/ unknown 3849 ϩ 10kb/ G85E 3849 ϩ 10kb/ ⌬F508 3849 ϩ 10kb/ ⌬F508 3849 ϩ 10kb/ ⌬F508 3849 ϩ 10kb/ ⌬F508 Ethnicity Hispanic Hispanic Hispanic Hispanic Caucasian Hispanic Caucasian Age/age @ diagnosis (years, months) 6.5/3 10/3,11 23/1 7/11 month 44/16.5 10/6,8 46.5/27 Sweat chloridea (mmol/liter) 52 72 53 86 84 55 47 FEV1 b (%)/ Unavailable 67/6 29/17 Unavailable 20/38.5 96/6.5 51/42.5 age (years) Unavailable 64/8 33/21 Unavailable 16/40.5 94/10 46/46 FVCc (%)/ Unavailable 86/6 54/17 Unavailable 42/38.5 110/6.5 71/42.5 age (years) Unavailable 90/8 71/21 Unavailable 41/40.5 103/10 71/46 FEV1/FVCd Unavailable 0.78/6 0.54/17 Unavailable 0.48/38.5 0.87/6.5 0.72/42.5 age (years) Unavailable 0.71/8 0.46/21 Unavailable 0.39/40.5 0.91/10 0.65/46 Pancreatic statuse PI PI PS PS PS PS PS Height (%)/Weight (%)f 35/25/2 70/50/4 Ͻ5/Ͻ5/17 45/25/14 months 35/Ͻ5/29 75/75/6, 5 55/Ͻ5/42, 7 Age (years, months) 10/Ͻ5/6 35/55/8, 9 Ͻ5/Ͻ5/22 Ͼ95/Ͼ95/3, 3 35/Ͼ5/40, 7 80/85/10, 2 55/Ͻ5/45 Microbiological colonizationg a/mucoid a/mucoid, c a/mucoid a a/mucoid, c a, b a/mucoid Other clinical features Lobar atelectasis Lobectomy (2.5 years) Bronchiectasis Pancrease MT16e Malnutrition Chronic cough Bronchiectasis Ultrase 12e On lung transplant list No known children Pneumonia Pancreasee stopped Hyponatremia Dehydration Lung transplant (43 years) Two children Pneumonia Nasal polyps Chronic cough Sinus Surgery Repeat pancreatitis Pneumonia Decreased sperm count Nasal polyps Gallbladder removed (25 years) Appendectomy (teenage) No known children a Sweat test, concentrations of Cl in mmol/L. Login to comment 71 ABCC7 p.Gly85Glu The clinical phenotype of a rare compound heterozygote, 3849 1 10 kb C 3 T/G85E has never been described before. Login to comment 72 ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu The clinical phenotype of a rare compound heterozygote, 3849 ϩ 10 kb C 3 T/G85E has never been described before. Login to comment 73 ABCC7 p.Gly85Glu The missense mutation, G85E, changes the uncharged small glycine residue at position 85 in the first membrane spanning domain of the CFTR to a negatively charged glutamic acid (14). Login to comment 75 ABCC7 p.Gly85Glu Our patient with 3849 1 10kb C 3 T/ G85E genotype was diagnosed early (at 1 year of age). Login to comment 76 ABCC7 p.Gly85Glu Our patient with 3849 ϩ 10kb C 3 T/ G85E genotype was diagnosed early (at 1 year of age). Login to comment 78 ABCC7 p.Gly85Glu Patients with G85E mutation reportedly demonstrated phenotypic heterogeneity (14,15). Login to comment 79 ABCC7 p.Gly85Glu Patients with G85E mutation reportedly demonstrated phenotypic heterogeneity (14,15). Login to comment