Dataset Information

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

ABSTRACT:

Background

Hereditary 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.

Methods

We 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).

Results

We 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.

Conclusion

Our study further expanded the genotype of orotic aciduria and highlighted the probability of misdiagnosis in clinical practice.

SUBMITTER: Ma R

PROVIDER: S-EPMC8959382 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Publications

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

Ma Rui R Ye Jing J Han Jiaqi J Gao Lehong L Wang Chaodong C Wang Yuping Y

Frontiers in neurology 20220309

<h4>Background</h4>Hereditary orotic aciduria (HOA) is a rare genetic disorder of pyrimidine metabolism caused by variations in the uridine monophosphate synthetase (<i>UMPS</i>) gene and inheritance are autosomal recessive. Heterozygous <i>UMPS</i> mutations can also lead to orotic aciduria without clinical consequence.<h4>Methods</h4>We conducted molecular genetic analyses on proband using whole-exome sequencing (WES) and on 12 family members using Sanger sequencing for <i>UMPS</i> mutation. W ...[more]

PMID: 35356460

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