同型半胱氨酸血症的新生儿筛查:中国人群中基因突变和流行病学数据分析

Newborn screening for classic homocystinuria: A literature review of mutational and epidemiological data in a Chinese population

经典型的同型半胱氨酸血症是由半胱硫氨酸-β-合酶(CBS)的缺乏引起的罕见单基因遗传代谢病。本综述汇总并分析已报道的CBS基因的突变和中国人群中经典型同型半胱氨酸血症的发病情况,以及新生儿遗传代谢病筛查中的应用前景,期望为国内出生缺陷防控提供依据帮助。

Classic homocystinuria is a monogenic disorder caused by cystathionine β-synthase deficiency. The study objective was to describe the mutational analysis of the CBS gene and estimate classic homocystinuria prevalence in a Chinese population. Moreover, the application prospects of neonatal genetic metabolic disease screening were also summarized in order to provide evidence for the prevention and control of birth defects in China.