A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.
J Hum Genet
; 64(10): 979-983, 2019 Oct.
Article
em En
| MEDLINE
| ID: mdl-31388113
ABSTRACT
Leukodystrophies are genetic disorders leading to progressive white matter degeneration in the central nervous system. Mitochondrial aminoacyl tRNA synthase protein is encoded by the nuclear gene AARS2. An autosomal recessive mutation in this gene has been linked to AARS2 mutation-related adult-onset leukodystrophy (AARS2-L) or infantile mitochondrial cardiomyopathy. To date, only 16 AARS2-L cases have been reported in English literature. Thus, the clinical and genetic characteristics of this disease remain to be defined. Through whole-exome sequencing, we identified a Chinese patient with leukodystrophy related to two novel compounds heterozygous mutation in AARS2 (c.965 G > A, p.R322H; c.334 G > C, p.G112R). These two compounds heterozygous variants in AARS2 gene co-segregated with disease in his family. And pyramidal tracts in the spinal cord were involved. Our findings have important implications on genetic counseling for any case with leukodystrophy and extend the mutational spectrum in AARS2 gene.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Medula Espinal
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Doenças da Medula Espinal
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Encéfalo
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Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central
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Alanina-tRNA Ligase
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Leucoencefalopatias
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article