Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.

ABSTRACT:

Background

Citrullinemia type 1 (CTLN1) is a rare autosomal recessive disease caused by argininosuccinate synthetase (ASS) deficiency. Manifestations vary from the acute neonatal or "classic" form to a milder, late-onset, or "unconventional" form. To date, more than 93 variants in the ASS1 gene located on chromosome 9q43.11 (OMIM #215700) are reportedly responsible for CTLN1. Their incidence and distribution vary according to geographic origins and ethnicity, and a correlation, although not clearly delineated, has been established between the genotype and the phenotype of the disease. Though, in the Middle East, national descriptions of CTLN1 are still lacking.

Methods

A total of ten unrelated Middle Eastern families, five Lebanese, two Syrians, and three Iraqis with citrull

SUBMITTER: Daou M 

PROVIDER: S-EPMC9938749 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature