ABCMdb

PMID: 12503104

Kulczycki LL, Kostuch M, Bellanti JA
A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations.
Am J Med Genet A. 2003 Jan 30;116A(3):262-7., 2003-01-30 [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Arg553* ABCC7 p.Gly542* The frequency of other mutations, for example R553X, G542X, and 1717-1(G-A), is estimated to range from 1-3% [Cystic Fibrosis Genetic Analysis Consortium, 1990, 1994]. Login to comment 44 ABCC7 p.Trp1282* The CFTR genotypes 3849 þ 10Kb C-T/DF508 and 3849 þ C-T/W1282X have been observed in a few fertile men with CF. Login to comment 45 ABCC7 p.Trp1282* In contrast to 3849 þ 10Kb C-T genotypes where mild degrees of infertility have been described, the DF508 and W1282X mutations are associated with ''severe`` degrees of infertility. Login to comment 84 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* At the age of 60, genetic testing indicated two mutations H1282X (severe) and A 445E (mild), confirming the CF diagnosis as a compound heterzygote with normal alleles for D F508, -G551D, -R553X, -G542X, and N1303K [Kulczycki et al., 1998]. Login to comment 101 ABCC7 p.Gly551Asp The results of studies by Illek et al. [1999] suggested correction of defective function of the G551D mutation by using genistein. Login to comment