A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I.

ABSTRACT:

Background

Citrullinemia type I (CTLN1, MIM #215700) is an autosomal recessive urea cycle disorder caused by deficiency of argininosuccinate synthase (ASS). CTLN1 is characterized by life-threatening hyperammonemia and risk for resulting neurocognitive impairments. The diagnosis of CTLN1 is confirmed by the identification of biallelic pathogenic variants in the ASS1 gene. However, there are a small percentage of CTLN1 patients with a characteristic biochemical phenotype without identifiable variants in ASS1. We describe the molecular characterization of two related Romani children with biochemically diagnosed CTLN1, whose clinical genetic testing failed to detect any pathogenic variant in ASS1.

Methods

Genomic DNA was extracted from peripheral blood lymp

SUBMITTER: Imagawa E 

PROVIDER: S-EPMC7330059 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature