A novel homozygous missense mutation in L-2-HGA gene: A case report.

Abstract

L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease resulted from the mutated gene L-2- hydroxyglutarate dehydrogenase (L2HGDH). We presented a female case who inherited the disease from her consanguineous relatives and suffered from cognitive impairment, seizure, and ataxia. Using cerebral magnetic resonance imaging (MRI), urine organic acid test, and high-throughput DNA sequencing, a novel homozygous missense mutation was found in the L2HGDH gene, namely c 0.847 G>A/p. G283R in exon 7. Summarizing the clinical information of the patient with L-2-HGA exhibited to be beneficial for the diagnosis of this rare disease. In summary, the pathogenic missense mutation in the case was reliably confirmed using the bioinformatics analysis.

• Authors: Yanjun Liu, Zhijun Wu, Wenjie Wang, Hongmei Han, Yongxiang Wang, Tiancheng Wang
• Journal: Clinical neurology and neurosurgery (Clin Neurol Neurosurg) Vol. 225 Pg. 107529 (02 2023) ISSN: 1872-6968 [Electronic] Netherlands
• PMID: 36610237 (Publication Type: Case Reports)
• Copyright: Copyright © 2023. Published by Elsevier B.V.

Chemical References

• Alcohol Oxidoreductases
• L2HGDH protein, human

Topics

• Humans
• Female
• Mutation, Missense
• Brain Diseases, Metabolic, Inborn (diagnosis, genetics)
• Magnetic Resonance Imaging
• Homozygote
• Mutation
• Alcohol Oxidoreductases (genetics)