ABCMdb

PMID: 21847140

Viart V, Des Georges M, Claustres M, Taulan M
Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.
Eur J Hum Genet. 2012 Feb;20(2):180-4. doi: 10.1038/ejhg.2011.161. Epub 2011 Aug 17., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCC7 p.Arg117His ABCC7 p.Arg117His The mutation R117H occurring in cis with the 5-thymidine (5T) tract variant in intron 8 generally results in pancreatic sufficient CF and as such, is considered as a mild mutation, whereas R117H in cis with the 7T is mainly considered as a CFTR-related disease-associated mutation with low penetrance.7 Complex alleles may also involve alterations in the CFTR promoter region, as is the case for the (À102T4A;S549R)+(F508del) genotype for which the promoter sequence variation is associated with an increase in CFTR expression and a moderate clinical phenotype.8 Here we report the functional analysis of a promoter variant associated in cis with a frameshift mutation (48C4G;3532AC4 GTA)+(F508del) identified in a patient with a classic form of CF as characterized by a positive sweat test, pulmonary symptoms, digestive manifestations and pancreatic insufficiency. Login to comment