Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.
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ABSTRACT:
SUBMITTER: Viart V
PROVIDER: S-EPMC3260914 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Publications
Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.
Viart Victoria V Des Georges Marie M Claustres Mireille M Taulan Magali M
European journal of human genetics : EJHG 20110817 2
In monogenic diseases, the presence of several sequence variations in the same allele may complicate our understanding of genotype-phenotype relationships. We described new alterations identified in a cystic fibrosis (CF) patient harboring a 48C>G promoter sequence variation associated in cis of a 3532AC>GTA mutation and in trans with the F508del mutation. Functional analyses including in vitro experiments confirmed the deleterious effect of the 3532GTA frameshift mutation through the creation o ...[more]
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