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Updated: Feb 18, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but
Keiko Shimojima1, Takafumi Higashiguchi2, Kanako Kishimoto2
1Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Abstract:
The mitochondrial aspartyl-tRNA synthetase 2 gene (DARS2) is responsible for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). A Japanese patient with LBSL showed compound heterozygous DARS2 mutations c.358_359delinsTC (p.Gly120Ser) and c.228-15C>G (splicing error). This provides further evidence that most patients with LBSL show compound heterozygous mutations in DARS2 in association with a common splicing mutation in the splicing acceptor site of intron 2.
