Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria.

ABSTRACT: Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement. Methods: This study analyzed the pathogenic gene and molecular mechanism of two classic homocystinuria families through whole exome sequencing and in vitro experiments including minigene assay and expression analysis. Results: Both probands presented with ectopia lentis, high myopia, and abnormally elevated homocysteine level, but one of them had more severe clinical manifestations, including general growth retardation, mild intellectual disability, and severe pectus excavatum. Their family members were phenotypically normal but presented sl

SUBMITTER: Liu X 

PROVIDER: S-EPMC12024673 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature