ABCMdb

PMID: 9545412

Grody WW, Desnick RJ, Carpenter NJ, Noll WW
Diversity of cystic fibrosis mutation-screening practices.
Am J Hum Genet. 1998 May;62(5):1252-4., [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCC7 p.Arg117His For example, 13 of the laboratories do not test for R117H, which many would feel is one of the relatively more common and important mutations, associated with both classical CF and congenital bilateral absence of the vas deferens (Jezequel et al. 1995). Login to comment 31 ABCC7 p.Arg117His ABCC7 p.Arg117His And only two of the other laboratories specifically indicated that they include testing for the intronic 5/7/9T polymorphism that markedly affects phenotypic expression of R117H and some other CFTR mutations (Kiesewetter et al. 1993; Chillon et al. 1995). Login to comment 32 ABCC7 p.Arg117His ABCC7 p.Trp1282* Three laboratories do not include the prevalent W1282X Ashkenazi Jewish mutation, which would seem essential for any test panel directed at a North American urban population. Login to comment 33 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* Some of the laboratories included written comments that their panels cannot distinguish between mutations DF508 and DI507 (both 3-nucleotide deletions of adjacent codons) or G551D and R553X (two of the more common point mutations), which our ACMG/CAP committee already suspected, based on the results of our earlier CF challenges. Login to comment 34 ABCC7 p.Gly551Asp ABCC7 p.Arg553* Some of the laboratories included written comments that their panels cannot distinguish between mutations DF508 and DI507 (both 3-nucleotide deletions of adjacent codons) or G551D and R553X (two of the more common point mutations), which our ACMG/CAP committee already suspected, based on the results of our earlier CF challenges. Login to comment