Genetic analysis of two Chinese families with maple syrup urine disease

VernacularTitle:两个新生儿枫糖尿病家系的遗传学分析
Author: Chuan ZHANG ¹ ; Xuan FENG ; Liguo YAO ; Shengju HAO ; Ling HUI ; Xue CHEN ; Lei ZHENG ; Xing WANG ; Qinghua ZHANG ; Zongfu CAO
Author Information

1. 国家卫生健康委科学技术研究所，国家人类遗传资源中心，北京　100081
Keywords: Maple syrup urine disease; Genetic analysis; Prenatal diagnosis
From: Chinese Journal of Medical Genetics 2022;39(7):689-693
CountryChina
Language:Chinese
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. Conclusion:The new variants discovered in this study have expanded the mutational spectrum of the BCKDHB gene.