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Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria

Dong-Xiao Li1, Xi-Yuan Li1, Hui Dong1

  • 1Department of Pediatrics, Peking University First Hospital, No. 1 Xi'anmen Street, West District, Beijing, 100034, China.

World Journal of Pediatrics : WJP
|March 7, 2018
PubMed

Insights

This study identified eight novel cystathionine β-synthase (CBS) gene mutations in nine Chinese patients with classical homocystinuria, suggesting a distinct mutation spectrum in the Chinese population for this rare inherited disorder.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Rare Diseases

Background:

  • Classical homocystinuria is a rare inherited metabolic disorder.
  • This condition is also known as homocysteinemia type 1.
  • The cystathionine β-synthase (CBS) gene is implicated in this disorder.

Purpose of the Study:

  • To identify mutations in the cystathionine β-synthase (CBS) gene.
  • To investigate the genetic basis of classical homocystinuria in Chinese patients.

Main Methods:

  • Diagnosis of nine Chinese patients based on plasma total homocysteine and blood methionine levels.
  • Analysis of the cystathionine β-synthase (CBS) gene in patients and their families.

Main Results:

  • All patients exhibited significantly elevated plasma homocysteine and blood methionine levels.
  • Eight novel mutations and three previously reported mutations in the CBS gene were identified.
  • None of the patients responded to pyridoxine treatment.

Conclusions:

  • Eight novel CBS gene mutations were identified in Chinese patients with classical homocystinuria.
  • The findings suggest a potentially different CBS mutation spectrum in the Chinese population compared to others.
  • Mutation identification aids in diagnosis, genetic counseling, and prenatal diagnosis.
Abstract

Keywords:
Cystathionine β-synthaseHomocysteineHomocystinuriaMethionineMutation

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