| 邓博心,刘玉娟,李家旺,等.MMACHC基因变异引起的甲基丙二酸尿症伴同型半胱氨酸尿症 cblC型 1例[J].安徽医药,2026,30(7):1425-1429. |
| MMACHC基因变异引起的甲基丙二酸尿症伴同型半胱氨酸尿症 cblC型 1例 |
| Methylmalonic aciduria with homocysteinuria cblC caused by MMACHC gene variation: a case study |
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| DOI：10.3969/j.issn.1009-6469.2026.07.030 |
| 中文关键词: 甲基丙二酸尿症 同型半胱氨酸尿症 cblC型 MMACHC基因 基因检测 |
| 英文关键词: Methylmalonic aciduria Homocysteinuria cblC type MMACHC gene Genetic testing |
| 基金项目: |
| 作者 | 单位 | E-mail | | 邓博心 | 山东第二医科大学,临床医学院,山东潍坊,261000 | | | 刘玉娟 | 潍坊市妇幼保健院,中心供应室, | | | 李家旺 | 山东第二医科大学,麻醉学院,山东潍坊,261000 | | | 赵明明 | 潍坊市妇幼保健院,新生儿科,山东潍坊 261000 | | | 鲍东霞 | 山东第二医科大学,临床医学院,山东潍坊,261000 | | | 李忠良 | 潍坊市妇幼保健院,新生儿科,山东潍坊 261000 | 13396469666@126.com |
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| 中文摘要: |
| 目的分析 1例由 MMACHC基因变异导致甲基丙二酸尿症伴同型半胱氨酸尿症 cblC型病儿的临床表型和遗传学特征，为该病的诊断和遗传咨询提供参考依据。方法收集潍坊市妇幼保健院 2024年 4月诊治的 1例甲基丙二酸尿症伴同型半胱氨酸尿症 cblC型病儿的临床资料，采集病儿及其正常表型的父母外周血样，提取全基因组 DNA，对全外显子组基因进行基因检测、生物信息学预测分析确定致病基因，并对亲代进行验证。结果病儿 MMACHC基因发生 c.609G>A(p.W203*)与 c.683C>T(p.A228V)复合杂合变异。根据美国医学遗传学与基因组学学会( ACMG)的指南预测 c.609G>A(p.W203*)为致病性变异， c.683C>T(p.A228V)为意义不明确，多种生物信息计算方法预测该变异对基因有害。结论 MMACHC基因变异 c.609G> A(p.W203*)与 c.683C>T(p.A228V)复合杂合变异为病儿的遗传学病因，该病临床特征不典型，病情进展迅速，预后差，对高度怀疑此类疾病的病儿及时进行基因检测可辅助诊断与临床决策，提高病人预后。 |
| 英文摘要: |
| Objective To analyze the clinical phenotype and genetic characteristics of a child with combined methylmalonic aciduriaand homocystinuria, cblC type, caused by MMACHC gene variation, and to provide a reference for the diagnosis and genetic counselingof this disease.Methods In April 2024, the clinical data of a case of methylmalonic aciduria with homocystinuria (cblC type) at Wei-fang Maternal and Child Health Hospital were collected. Peripheral blood samples of the child and his/her parents with normal pheno-types were collected, and genomic DNA was extracted. The entire exome genes were tested for genetic analysis and bioinformatics pre-diction to determine the pathogenic gene, and the parents were also verified. Results The sequencing results showed that theMMACHC gene of the child had a compound heterozygous variation of c.609G>A (p.W203*) and c.683C>T (p.A228V). According tothe guidelines of the American College of Medical Genetics and Genomics (ACMG), c.609G>A (p.W203*) was predicted to be a patho-genic variant, while c.683C>T (p.A228V) was considered to have an unclear significance. Various bioinformatics calculation methodspredicted that this variation was harmful to the gene.Conclusions The compound heterozygous variation of MMACHC gene, c.609G>A (p.W203*) and c.683C>T (p.A228V), is the genetic cause of the disease in the patient. The clinical features of this disease are atypi-cal, with rapid progression and poor prognosis. Timely genetic testing for children with a high suspicion of this disease can assist in di-agnosis and clinical decision-making, and improve the prognosis of the patients. |
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