摘要
Homocystinuria due to cystathionin-β-synthase(CBS)deficiency is a rare genetic disease that most often diagnosed in childhood and can cause damage to the multiple systems.[1,2]The inherited mode of CBS gene deficiency is usually autosomal recessive inheritance.More than 160 mutations have been identified in CBS genes so far(http://cbs.lf1.cuni.cz/index.php),one of the most common mutations is c.833T>C point mutation,and then followed by c.572C>T,c.919G>A,and c.1006C>T point mutations.In 2018,Li et al[2]found eight brand new mutation sites in patients with CBS deficiency in China,pointing out that the CBS mutant site spectrum of Chinese people is significantly different from that of other races.In this paper,we further conducted a retrospective analysis of seven homocystinuric patients of CBS deficiency admitted to our institute.
基金
supported by a grant from the Natural Science Foundation of Hunan Province(No.2020JJ4875)。
