ABCMdb

PMID: 14551163

Gilljam M, Moltyaner Y, Downey GP, Devlin R, Durie P, Cantin AM, Zielenski J, Tullis DE
Airway inflammation and infection in congenital bilateral absence of the vas deferens.
Am J Respir Crit Care Med. 2004 Jan 15;169(2):174-9. Epub 2003 Oct 9., 2004-01-15 [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Met952Thr DEMOGRAPHIC DATA FOR MEN WITH CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS Sweat Chlorides Nasal PD FEV1 Patient Age (yr) Genotype (mmol/l) (mean/⌬, mV) (%pred)‡ 1 41 ⌬F508/R117H, 7T 50 -34/13 106 2† 31 R117H, 7T/R117H, 7T 31, 40 -31/5 107 3† 36 G551D/R117H, 7T 66, 64 -29/8 118 4† 44 ⌬F508/R117H, 7T 54, 67 -23/6 109 5† 35 ⌬F508/4016insT 74, 88 -46/9 110 6 41 ⌬F508/unidentified, 5T 23, 24 -32/7 118 7 37 ⌬F508/M952T 41, 44 -20/20 122 8† 45 ⌬F508/P67L 47, 59 -36/6 78 Definition of abbreviations: mean/⌬ ϭ mean basal potential difference/change in response to perfusion with a chloride-free solution plus isoproterenol; PD ϭ potential difference. Login to comment 156 ABCC7 p.Arg117His The R117H mutation should not be considered a CF-causing mutation unless combined with the 5T variant or evidence of CFTR malfunction demonstrated by sweat test or nasal PD measurements (28). Login to comment 157 ABCC7 p.Arg117His In our study population, three of the four men with infertility who carried the R117H mutation in association with the 7T mutation had independent clinical or laboratory evidence of CFTR malfunction with elevated sweat chlorides and/or abnormal nasal PD. Login to comment 158 ABCC7 p.Arg117His In addition to the T-tract length, it is possible that environmental factors or modifier genes play a role in determining whether patients with R117H mutations presenting with CBAVD eventually will develop multiorgan disease (10). Login to comment 159 ABCC7 p.Arg117His ABCC7 p.Arg117His Nontypical CF disease sometimes develops late in life as described in an elderly woman with the ⌬F508/R117H mutation (unknown T-tract) (55). Login to comment