Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease

CONCLUSIONS: This study is the first time report on rearrangement sequences in BCKDHA mediated by Alu element, which resulted in MSUD. Our results may also offer new insights into the formation and pathogenicity of MSUD, and may be useful to genetic counseling and genetic testing.PMID:33607070 | DOI:10.1016/j.cca.2021.01.023

Source: International Journal of Clinical Chemistry - February 19, 2021 Category: Chemistry Authors: Shujun Ma Zhongxin Zhang Yanyan Fu Mingxia Zhang Yuna Niu Ruiguang Li Qinghe Guo Zhian He Qingwei Zhao Zhishan Song Xia Wang Ruili Sun Source Type: research