A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.

ABSTRACT: Thioredoxins belong to a large family of enzymatic proteins that function as general protein disulfide reductases, therefore participating in several cellular processes via redox-mediated reactions. So far, none of the 18 members of this family has been involved in human pathology. Here we identified TXNDC3, which encodes a thioredoxin-nucleoside diphosphate kinase, as a gene implicated in primary ciliary dyskinesia (PCD), a genetic condition characterized by chronic respiratory tract infections, left-right asymmetry randomization, and male infertility. We show that the disease, which segregates as a recessive trait, results from the unusual combination of the following two transallelic defects: a nonsense mutation and a common intronic variant found in 1% of control chromosomes. This vari

SUBMITTER: Duriez B 

PROVIDER: S-EPMC1805560 | biostudies-literature | 2007 Feb

REPOSITORIES: biostudies-literature