Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

ABSTRACT:

Background

Argininosuccinic aciduria (ASAuria) is an autosomal recessive disorder of the urea cycle relatively common in Saudi Arabia as a consequence of extensive consanguinity. It is the most common urea cycle disorder identified in the Saudi population, which therefore prioritizes the need to delineate the underlying molecular defects leading to disease.

Findings

We utilized Whole Genome Amplification (WGA), PCR and direct sequencing to identify mutations underlying ASAuria cases diagnosed by our institution. A missense mutation that accounts for 50% of Saudi ASAuria patients was recently reported by our laboratory. In this study we report a further six novel mutations (and one previously reported) found in Saudi patients with ASAuria. The novel four missense, one nonsens

SUBMITTER: Imtiaz F 

PROVIDER: S-EPMC2851718 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature