甘肃地区遗传代谢病疾病谱及致病基因分析

doi:10.7499/j.issn.1008-8830.2308094

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Abstract Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China. Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination. Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates, and the overall prevalence rate of IMD was 0.63‰ (1/1 593), among which phenylketonuria showed the highest prevalence rate of 0.32‰ (1/3 083), followed by methylmalonic acidemia (0.11‰, 1/8 959) and tetrahydrobiopterin deficiency (0.06‰, 1/15 927). In this study, 166 variants were identified in the 28 pathogenic genes, with 13 novel variants found in 9 genes. According to American College of Medical Genetics and Genomics guidelines, 5 novel variants were classified as pathogenic variants, 7 were classified as likely pathogenic variants, and 1 was classified as the variant of uncertain significance. Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

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	Articles by authors
	ZHANG Chuan
	HUI Ling
	ZHOU Bing-Bo
	ZHENG Lei
	WANG Yu-Pei
	HAO Sheng-Ju
	DA Zhen-Qiang
	MA Ying
	GUO Jin-Xian
	CAO Zong-Fu
	MA Xu

Key words： Inherited metabolic disorder Genetic variation Accurate screening and diagnosis Neonate

Received: 25 August 2023

Cite this article:

ZHANG Chuan,HUI Ling,ZHOU Bing-Bo et al. Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China[J]. CJCP, 2024, 26(1): 67-71.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2308094 OR http://www.zgddek.com/EN/Y2024/V26/I1/67

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