Related Experiment Video
Updated: Sep 5, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Genetic analysis of two Chinese families with maple syrup urine disease]
Chuan Zhang1, Xuan Feng, Liguo Yao
11National Research Institute for Health and Family Planning, National Human Genetic Resources Center, Beijing 100081, China. zongfu_cao@163.com.
Objective:
To carry out genetic analysis for 3 children from two Chinese families affected with maple syrup urine disease (MSUD).
Methods:
Target capture - next-generation sequencing and Sanger sequencing were used to detect pathogenic variants associated with MSUD.
Results:
The proband from family 1 was found to harbor homozygous c.560G>T (p.Gly187Val) variant of the BCKDHB gene (NM_000056), whilst the two patients from family 2 were found to harbor compound heterozygous variants c.197-2A>G (splicing)/c.218delT (p.F74Sfs*4) of the BCKDHB gene. Among these, the c.560G>T and c.218delT variants were unreported previously.
Conclusion:
The new variants discovered in this study have expanded the mutational spectrum of the BCKDHB gene.
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