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[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I]

Rui Dong1, Kaihui Zhang, Hui Guo

  • 1Institute of Pediatric Research, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|October 31, 2023
PubMed

Insights

This study analyzed three Chinese families with Citrullinemia type I (CTLN1), identifying novel ASS1 gene variants. These findings expand the known mutation spectrum for CTLN1 in Chinese populations.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Context:

  • Citrullinemia type I (CTLN1) is an autosomal recessive urea cycle disorder.
  • Genetic heterogeneity contributes to the diverse clinical presentations of CTLN1.
  • Understanding the genetic basis of CTLN1 is crucial for diagnosis and management.

Purpose:

  • To investigate the clinical and genetic profiles of three Chinese pedigrees with Citrullinemia type I.
  • To identify and validate novel pathogenic variants in the ASS1 gene associated with CTLN1.
  • To contribute to the understanding of the genetic diversity of CTLN1 in the Chinese population.

Summary:

  • Three pediatric patients diagnosed with CTLN1 were studied using next-generation sequencing and Sanger sequencing.
  • Compound heterozygous variants in the ASS1 gene were identified in the probands and confirmed to be inherited from their parents.
  • Newly identified variants, c.207_209delGGA and c.364-1G>A, expand the known mutational spectrum of the ASS1 gene.

Impact:

  • The study expands the known spectrum of ASS1 gene mutations in Citrullinemia type I.
  • It highlights the genetic heterogeneity of CTLN1 in Chinese patients.
  • Findings aid in genetic counseling and potentially inform diagnostic strategies for urea cycle disorders.
Abstract

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