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HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype

Yucheng Ge1, Yukun Liu1, Ruichao Zhan1

  • 1Department of Urology, Beijing Friendship Hospital, Capital Medical University, 95 YongAn Road, Xicheng District, Beijing, 100050, China.

World Journal of Urology
|June 15, 2023
PubMed

Insights

Genetic analysis of Chinese primary hyperoxaluria type 3 (PH3) patients reveals common HOGA1 gene mutations, particularly exon 6 skipping, correlating with earlier disease onset and kidney function decline.

Area of Science:

  • Genetics
  • Nephrology
  • Biochemistry

Background:

  • Primary hyperoxaluria type 3 (PH3) is a rare genetic disorder.
  • Understanding the genetic basis of PH3 in diverse populations is crucial for diagnosis and treatment.

Purpose of the Study:

  • To investigate the genetic variations in the HOGA1 gene among Chinese patients with PH3.
  • To explore the correlation between specific genotypes and clinical phenotypes in this population.

Main Methods:

  • Retrospective analysis of genetic and clinical data from a cohort of Chinese PH3 patients.
  • Systematic literature review of published studies on Chinese PH3 populations (2010-2022).

Main Results:

  • Sixty Chinese PH3 patients were analyzed, identifying 29 distinct HOGA1 gene variants.
  • Exon 6 skipping mutations were the most prevalent genotype (48.76% AF), associated with a significantly earlier age of onset.
  • 22.5% of patients showed decreased estimated glomerular filtration rate, with one homozygous case developing end-stage renal disease.

Conclusions:

  • Identified a mutation hotspot and genotype-phenotype correlations in Chinese PH3 patients.
  • Expanded the known mutational spectrum of HOGA1 in PH3.
  • Findings may aid in developing diagnostic and therapeutic strategies for PH3.
Abstract

Keywords:
ChineseGenotypeKidney stonePhenotypePrimary hyperoxaluria type 3

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