ABCMdb

PMID: 23142604

Gelfond D, Borowitz D
Gastrointestinal complications of cystic fibrosis.
Clin Gastroenterol Hepatol. 2013 Apr;11(4):333-42; quiz e30-1. doi: 10.1016/j.cgh.2012.11.006. Epub 2012 Nov 8., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Gly551Asp There have been great strides in the development of therapeutic interventions to treat nutritional, respiratory, and infectious complications in CF patients, who have overall prolonged life span and quality of life.3 A novel breakthrough therapy was approved by the Food and Drug Administration (FDA) in the United States in May 2012 that targeted specific dysfunctional protein in CF patients with G551D mutation.4 It is likely that more therapeutic interventions specifically targeting a defective cellular pathway or protein will be developed for other mutations, which would enable true disease prevention in patients with CF. Login to comment 20 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* The most common genotypes in infants with MI are severe mutations (F508del, G542X, W1282X, R553X, G551D), although most patients with these mutations do not present with MI.9 Recent genome-wide association studies have been able to account for approximately 17% of the phenotypic variability,14 implying that other non-CFTR genetic factors also contribute to this clinical presentation. Login to comment