Objective: To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.
Methods: Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.
Results: DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.
Conclusion: Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.