Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.

Abstract

BACKGROUND:

Missense mutations in the mitochondrial alanyl-tRNA synthetase 2 (AARS2) gene are clinically associated with infantile mitochondrial cardiomyopathy or adult-onset leukoencephalopathy with early ovarian failure. To date, approximately 40 cases have been reported related to AARS2 mutations, while its genetic and phenotypic spectrum remains to be defined.

CASE PRESENTATION:

We identified a 24-year-old Chinese female patient with adult-onset leukoencephalopathy carrying novel compound heterozygous pathogenic mutations in the AARS2 gene (c.718C > T and c.1040 + 1G > A) using a whole-exome sequencing approach.

CONCLUSIONS:

Our findings further extend the mutational spectrum of AARS2-related leukoencephalopathy and highlight the importance of the whole-exome sequencing in precisely diagnosing adult-onset leukoencephalopathies.

• Authors: Yan Fan, Jinming Han, Yanyan Yang, Tuanzhi Chen
• Journal: BMC neurology (BMC Neurol) Vol. 22 Issue 1 Pg. 214 (Jun 08 2022) ISSN: 1471-2377 [Electronic] England
• PMID: 35676634 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2022. The Author(s).

Chemical References

• Alanine-tRNA Ligase

Topics

• Adult
• Alanine-tRNA Ligase (genetics)
• China
• Female
• Humans
• Leukoencephalopathies (genetics, pathology)
• Magnetic Resonance Imaging
• Mutation (genetics)
• Young Adult