Abstract：
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.
CONCLUSIONS: The new variants discovered in this study have expanded the mutational spectrum of the BCKDHB gene.
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.
CONCLUSIONS: The new variants discovered in this study have expanded the mutational spectrum of the BCKDHB gene.
摘要：
目的：对来自两个中国家庭的3名患有枫糖浆尿病（MSUD）的儿童进行遗传分析。
方法：目标捕获-下一代测序和Sanger测序用于检测与MSUD相关的致病变异。
结果：发现来自家族1的先证者具有纯合c.560G>T（p。Gly187Val）BCKDHB基因（NM_000056）的变体，而来自家庭2的两名患者被发现具有复合杂合变体c.197-2A>G（剪接）/c.218delT（p。BCKDHB基因的F74Sfs*4)。其中,c.560G>T和c.218delT变体以前没有报道。
结论：本研究中发现的新变异扩展了BCKDHB基因的突变谱。
方法：目标捕获-下一代测序和Sanger测序用于检测与MSUD相关的致病变异。
结果：发现来自家族1的先证者具有纯合c.560G>T（p。Gly187Val）BCKDHB基因（NM_000056）的变体，而来自家庭2的两名患者被发现具有复合杂合变体c.197-2A>G（剪接）/c.218delT（p。BCKDHB基因的F74Sfs*4)。其中,c.560G>T和c.218delT变体以前没有报道。
结论：本研究中发现的新变异扩展了BCKDHB基因的突变谱。
