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Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient
- Source :
- Genetics Research, Vol 2022 (2022)
- Publication Year :
- 2022
- Publisher :
- Hindawi - Cambridge University Press, 2022.
-
Abstract
- Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder mainly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MMUT) and leads to the reduced activity of MCM. In this study, a 3-year-old girl was diagnosed with carnitine deficiency secondary to methylmalonic acidemia by tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GS/MS). Whole-exome sequencing (WES) was performed on the patient and identified two compound heterozygous mutations in MMUT: c.554C>T (p. S185F) and c.729–730insTT (p. D244Lfs∗39). Bioinformatics analysis predicted that the rare missense mutation of c.554C>T would be damaging. Moreover, this rare mutation resulted in the reduced levels of MMUT mRNA and MMUT protein. Collectively, our findings provide a greater understanding of the effects of MMUT variants and will facilitate the diagnosis and treatment of patients with MMA.
Details
- Language :
- English
- ISSN :
- 14695073
- Volume :
- 2022
- Database :
- Directory of Open Access Journals
- Journal :
- Genetics Research
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.051b02e6eae0489b8c51e57c3389f097
- Document Type :
- article
- Full Text :
- https://doi.org/10.1155/2022/5611697