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Case Report: A Novel Missense Mutation c.517G>C in the UMPS Gene Associated With Mild Orotic Aciduria

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机构： [1]Department of Neurology, Xuanwu Hosptial, Captial Medical University, Beijing, China [2]Beijing Key Laboratory of Neuromodulation, Beijing, China [3]National Clinical Research Center for Geriatric Diseases, Beijing, China

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关键词： case report orotic aciduria UMPS epilepsy intellectual disability

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BackgroundHereditary orotic aciduria (HOA) is a rare genetic disorder of pyrimidine metabolism caused by variations in the uridine monophosphate synthetase (UMPS) gene and inheritance are autosomal recessive. Heterozygous UMPS mutations can also lead to orotic aciduria without clinical consequence. MethodsWe conducted molecular genetic analyses on proband using whole-exome sequencing (WES) and on 12 family members using Sanger sequencing for UMPS mutation. We analyzed the urine metabolites of family members carrying UMPS heterozygous variants with standard gas chromatography-mass spectrometry (GC-MS). ResultsWe identified a novel UMPS 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. ConclusionOur study further expanded the genotype of orotic aciduria and highlighted the probability of misdiagnosis in clinical practice.

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出版当年[2021]版：

大类 | 3 区医学

小类 | 3 区临床神经病学 3 区神经科学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区临床神经病学 3 区神经科学

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出版当年[2020]版：

Q2 NEUROSCIENCES Q2 CLINICAL NEUROLOGY

最新[2023]版：

Q2 CLINICAL NEUROLOGY Q3 NEUROSCIENCES

影响因子： 2.7 最新[2023版] 3.3 最新五年平均 4.003 出版当年[2020版] 4.189 出版当年五年平均 2.889 出版前一年[2019版] 4.086 出版后一年[2021版]

第一作者：

第一作者机构： [1]Department of Neurology, Xuanwu Hosptial, Captial Medical University, Beijing, China [2]Beijing Key Laboratory of Neuromodulation, Beijing, China

通讯作者：

通讯机构： [1]Department of Neurology, Xuanwu Hosptial, Captial Medical University, Beijing, China [2]Beijing Key Laboratory of Neuromodulation, Beijing, China [3]National Clinical Research Center for Geriatric Diseases, Beijing, China

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