两个新生儿枫糖尿病家系的遗传学分析

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.GIy187Val) variant of the BCKDHB gene (NM-000056), whilst the two patients from family 2 were found to harbor compound heterozygous variants c.1972A>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.