{Reference Type}: English Abstract
{Title}: [Genetic analysis of two Chinese families with maple syrup urine disease].
{Author}: Zhang C;Feng X;Yao L;Hao S;Hui L;Chen X;Zheng L;Wang X;Zhang Q;Cao Z;Zhang C;Feng X;Yao L;Hao S;Hui L;Chen X;Zheng L;Wang X;Zhang Q;Cao Z;
{Journal}: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
{Volume}: 39
{Issue}: 7
{Year}: Jul 2022 10
暂无{DOI}: 10.3760.cma.j.cn511374-20210225-00162
{Abstract}: <B>OBJECTIVE: </B>To carry out genetic analysis for 3 children from two Chinese families affected with maple syrup urine disease (MSUD).<BR><B>METHODS: </B>Target capture - next-generation sequencing and Sanger sequencing were used to detect pathogenic variants associated with MSUD.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>The new variants discovered in this study have expanded the mutational spectrum of the BCKDHB gene.