ABCMdb

PMID: 16481891

Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM
A large deletion in the CFTR gene in CBAVD.
Genet Med. 2006 Feb;8(2):93-5., [PubMed]

Sentences

No. Mutations Sentence Comment

14 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys Genotypes from Group 1 were as follows: ⌬F508/wt (N ϭ 13), 5T/wt (N ϭ 7), ⌬F508/5T (N ϭ 1), G551D/wt genotype (N ϭ 2), and N1303K/wt (N ϭ 1). Login to comment 47 ABCC7 p.Arg1162Leu ABCC7 p.Arg1162Leu DNA sequence analysis identified a 3617 GϾT heterozygous base change that led to a R1162L mutation. This base change, located 4 bases from the 3=-end of the exon 19 forward primer, was described by Fanen et al. as a polymorphism,15 and was detected in a patient with asthma16 and in a patient with chronic pancreatitis.17 The R1162 residue is conserved across many species,16 and analysis of the effect of R1162L mutation on CFTR protein using the PolyPhen algorithm (http://www. Login to comment 56 ABCC7 p.Arg117His Recently, Niel et al. described the complete deletion of one copy of the CFTR gene and the presence of R117H(-7T) on the other chromosome in a 37-year-old man with CBAVD.19 This situation is predicted to result in reduced CFTR channel function due to the R117H allele,8 and indeed this patient did not have pancreatic insufficiency or lung disease.19 A second CBAVD patient in that study harbored ⌬F508 and a deletion of exons 17-17b; however, this individual displays classic CF symptoms. Login to comment