Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.

ABSTRACT:

Background

Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant and recessive forms have been described; the latter is also associated with sensorineural hearing loss.

Methods

Twenty-two Tunisian families were analyzed for mutations in the ATP6V1B1 and ATP6V0A4 genes by direct sequencing. Dating of the founder mutations was performed.

Results

Two founder mutations in the ATP6V1B1 gene were found in 16/27 dRTA cases. The p.Ile386Hisfs*56 founder mutation was estimated to be older than 2400 years and no correlations were found with deafness. For the remaining patients, two mutations in the ATP6V0A4 gene, one of t

SUBMITTER: Nagara M 

PROVIDER: S-EPMC4217022 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature