Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria

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This analysis uncovers novel CBS mutations in a Chinese family with classical homocystinuria, suggesting implications for genetic counseling.

The study identifies two novel CBS mutations, which impact enzymatic activity and lead to clinical symptoms in one sibling.
Whole-exome sequencing revealed compound heterozygous mutations, with one variant disrupting CBS expression and function.
Ancestry analysis indicated predominant East Asian ancestry with a small admixture of Central African Pygmy lineage.
The findings expand the known CBS mutation spectrum, emphasizing the need for ethnicity-specific genetic counseling.

Zhang et al. (2025) studied this question.

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This analysis uncovers novel CBS mutations in a Chinese family with classical homocystinuria, suggesting implications for genetic counseling.