21例甲基丙二酸血症的基因分析
[Genetic analysis of 21 cases of methylmalonic acidemia].
作者信息
Wang Xing, Sun Xiaohong, Hao Shengju, Liu Furong, Zhang Qinghua, Zheng Lei, Zhang Chuan
机构信息
Center of Medical Genetics, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, Gansu 730030, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):362-365. doi: 10.3760/cma.j.cn511374-20201218-00889.
OBJECTIVE
To carry out genetic analysis for 21 patients with methylmalonic acidemia (MMA) and provide genetic counseling for their families.
METHODS
Next generation sequencing (panel) was used to detect the pathogenic variants underlying the disease.
RESULTS
In total 29 variant sites of MMUT, MMAA, MMUT were identified in the 21 patients, with common variants including c.323G>A (10%), c.917C>T (10%), c.984delC (10%) of MMUT gene, and c.609G>A (45%), c.80A>G (10%) , c.567dupT (10%) of MMACHC gene. Among these, c.2000A>G of MMUT, c.298G>T of MMACHC and c.734-7A>G of MMAA gene were unreported previously.
CONCLUSION
Genetic testing for MMA patients can clarify the cause of the disease and provide a basis for the clinical diagnosis. Discovery of novel variants has enriched the mutational spectrum of MMA.
目的
对21例甲基丙二酸血症（MMA）患者进行基因分析，并为其家族提供遗传咨询。
方法
采用二代测序（基因 panel）检测疾病相关的致病变异。
结果
21例患者中共鉴定出MMUT、MMAA、MMACHC基因的29个变异位点，常见变异包括MMUT基因的c.323G>A（10%）、c.917C>T（10%）、c.984delC（10%），以及MMACHC基因的c.609G>A（45%）、c.80A>G（10%）、c.567dupT（10%）。其中，MMUT基因的c.2000A>G、MMACHC基因的c.298G>T和MMAA基因的c.734-7A>G为既往未报道的变异。
结论
对MMA患者进行基因检测可明确病因，为临床诊断提供依据。新变异的发现丰富了MMA的突变谱。
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