病例报告：与轻度乳清酸尿症相关基因中的一种新型错义突变c.517G>C
Case Report: A Novel Missense Mutation c.517G>C in the Gene Associated With Mild Orotic Aciduria.
作者信息
Ma Rui, Ye Jing, Han Jiaqi, Gao Lehong, Wang Chaodong, Wang Yuping
机构信息
Department of Neurology, Xuanwu Hosptial, Captial Medical University, Beijing, China.
Beijing Key Laboratory of Neuromodulation, Beijing, China.
出版信息
Front Neurol. 2022 Mar 9;13:819116. doi: 10.3389/fneur.2022.819116. eCollection 2022.
BACKGROUND
Hereditary orotic aciduria (HOA) is a rare genetic disorder of pyrimidine metabolism caused by variations in the uridine monophosphate synthetase () gene and inheritance are autosomal recessive. Heterozygous mutations can also lead to orotic aciduria without clinical consequence.
METHODS
We conducted molecular genetic analyses on proband using whole-exome sequencing (WES) and on 12 family members using Sanger sequencing for mutation. We analyzed the urine metabolites of family members carrying heterozygous variants with standard gas chromatography-mass spectrometry (GC-MS).
RESULTS
We identified a novel mutation (c.517G>C) in a Chinese-origin of orotic aciduria pedigree. The proband presented with epilepsy and intellectual disability (ID). Other mutation carriers in our pedigree presented with mild orotic aciduria without relevant medical complaints except for the proband.
CONCLUSION
Our study further expanded the genotype of orotic aciduria and highlighted the probability of misdiagnosis in clinical practice.
背景
遗传性乳清酸尿症（HOA）是一种罕见的嘧啶代谢遗传性疾病，由尿苷单磷酸合成酶（）基因突变引起，遗传方式为常染色体隐性遗传。杂合子突变也可导致乳清酸尿症，但无临床症状。
方法
我们对先证者进行全外显子组测序（WES）以进行分子遗传学分析，并对12名家庭成员进行Sanger测序以检测突变。我们使用标准气相色谱-质谱法（GC-MS）分析携带杂合变异体的家庭成员的尿液代谢物。
结果
我们在中国乳清酸尿症家系中鉴定出一种新的突变（c.517G>C）。先证者表现为癫痫和智力残疾（ID）。我们家系中的其他突变携带者表现为轻度乳清酸尿症，除先证者外无相关医学主诉。
结论
我们的研究进一步扩展了乳清酸尿症的基因型，并强调了临床实践中误诊的可能性。
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