ABCMdb

PMID: 7881429

Teng H, Cuppens H, De Boeck C, Cassiman JJ
Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population.
Hum Mol Genet. 1994 Dec;3(12):2249-50., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser1251Asn Five mutations had a frequency higher than 1%: AF508 (72.5%), G542X (5.5%), N1303K (3.5%), 1717-1G-A (2.5%) and S1251N (2.0%). Login to comment 6 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Leu206Trp ABCC7 p.Gly85Glu ABCC7 p.Asp1152His Seven of these were described previously: R117H (2), G551D (3), R553X (3), 394delTT (4), L206W (4), G85E (5) and D1152H (6). Login to comment 8 ABCC7 p.Gly551Asp ABCC7 p.Arg553* Mutations G551D and R553X were detected by reverse dot-blot analysis, using the INNO-LiPA2 assay (Innogenetics NV, Belgium). Login to comment 11 ABCC7 p.Gly85Glu The G85E mutation was found in a mutant CFTR gene of Turkish ancestry. Login to comment 12 ABCC7 p.Ile1139Val The II139V mutation was caused by a substitution of an A to a G at nucleotide position 3547, resulting in a substitution of isoleucine to valine at amino acid position 1139: II139V (Fig. Login to comment 26 ABCC7 p.Arg553* Indeed, the CF patient who is thought to be a compound heterozygote for the R553X and II139V mutations, based on the mutations found in her parents, was diagnosed at the age of 9 years, had positive pilocarpin sweat tests of 61 and 68 mEq/1, had bilateral nasal polyps, typical respiratory tract disease with isolation of Staphylococcus aureus and had normal exocrine pancreatic function as assessed by the absence of steatorrhea in several stool samples and normal pancreatic enzyme content in duodenal fluid and stool. Login to comment