ABCMdb

PMID: 12422349

Conway SP, Peckham DG, Chu CE, Ellis LA, Ahmed M, Taylor GR
Cystic fibrosis presenting as acute pancreatitis and obstructive azoospermia in a young adult male with a novel mutation in the CFTR gene.
Pediatr Pulmonol. 2002 Dec;34(6):491-5., [PubMed]

Sentences

No. Mutations Sentence Comment

39 ABCC7 p.Arg117His Their mutations (DF508/wild-type, 9T/5T in two, and DF508/R117H, 9T/7T in one) were those described most commonly in men whose only clinical manifestation of CF was obstructive azoospermia.7,8,10,11 Chillon et al., suggested that these mutations may produce CFTR protein with a normal structure but low levels of expression.10 CFTR function in these patients is about 10% of normal, compared to only 1% of normal in patients with classic CF. Login to comment