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.
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。