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The Hypoxic Ischemic Encephalopathy Model of Perinatal Ischemia
Published on: November 19, 2008
The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy
Xiaomeng Yin1, Beisha Tang1,2,3,4,5,6,7, Xiao Mao1
1Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
Insights
Mutations in the PARS2 gene cause infantile-onset neurodegenerative disorders. This study identifies new pathogenic variants in PARS2, expanding the understanding of this rare genetic disease.
Area of Science:
- Genetics
- Neuroscience
- Biochemistry
Background:
- Mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are crucial for protein synthesis.
- Mutations in mt-aaRSs are linked to various human diseases.
- PARS2, encoding prolyl-tRNA synthetase 2, has been implicated in infantile neurodegenerative disorders.
Purpose of the Study:
- To investigate the genetic basis of infantile-onset neurodegenerative disorders in two patients.
- To identify pathogenic variants in the PARS2 gene.
- To further elucidate the role of PARS2 in infantile encephalopathy.
Main Methods:
- Whole-exome sequencing was performed on two patients from a pedigree.
- Genetic variants were identified and analyzed.
- Clinical phenotypes were correlated with molecular findings.
Main Results:
- Two patients presented with early developmental delay, epileptic spasms, delayed myelination, and progressive cerebral atrophy.
- Compound heterozygous pathogenic variants [c.283G>A (p.95V>I)] and [c.604G>C (p.202R>G)] in PARS2 were identified.
- The identified PARS2 variants are associated with a distinct infantile-onset encephalopathy phenotype.
Conclusions:
- This study validates the role of PARS2 in infantile-onset encephalopathy.
- The findings contribute to understanding the phenotypic spectrum of PARS2-related disorders.
- Clinical and molecular insights are provided for diagnosing PARS2-associated neurodegenerative conditions.
Abstract:
Mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are a family of enzymes that play critical roles in protein biosynthesis. Mutations in mt-aaRSs are associated with various diseases. As a member of the mt-aaRS family, PARS2 encoding prolyl-tRNA synthetase 2 was recently shown to be associated with Alpers syndrome and certain infantile-onset neurodegenerative disorders in four patients. Here, we present two patients in a pedigree with early developmental delay, epileptic spasms, delayed myelination combined with cerebellar white matter abnormalities, and progressive cortical atrophy. Whole-exome sequencing revealed pathogenic compound heterozygous variants [c.283 G > A (p.95 V > I)] and [c.604 G > C (p.202 R > G)] in PARS2. Nearly all patients had epileptic spasms with early response to treatment, early developmental delay and/or regression followed by generalized hypotonia, postnatal microcephaly, elevated lactate levels, and progressive cerebral atrophy. Our study provides further evidence for validating the role of PARS2 in the pathology of related infantile-onset encephalopathy, contributing to the phenotypic features of this condition, and providing clinical and molecular insight for the diagnosis of this disease entity.
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