PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-01-12

AUTHORS

Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Keitaro Yamada, Tohru Okanishi, Nina Ekhilevitch, Hanna Mandel, Ayelet Eran, Miyuki Toyono, Yukio Sawaishi, Hirotaka Motoi, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto

ABSTRACT

Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs of compound heterozygous mutations, c.[151C>T];[1184T>G] and c.[707T>G];[594+1G>A], and a homozygous mutation, c.[500A>G];[500A>G], in a gene encoding asparaginyl-tRNA synthetase (NARS2) were also identified in the other three families. Mutations in genes encoding aminoacyl-tRNA synthetases cause gene-specific mitochondrial disorders. Biallelic PARS2 or NARS2 mutations are reported to cause Alpers’ syndrome, which is an autosomal recessive neurodegenerative disorder characterized by psychomotor regression and epilepsy with variable degree of liver involvement. Moreover, it is known that NARS2 mutations cause various clinical phenotypes, including non-syndromic hearing loss, Leigh syndrome, intellectual disability with epilepsy and severe myopathy. The individuals with PARS2 and NARS2 mutations, we have reported here demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type. Our data broaden the clinical and mutational spectrum of PARS2- and NARS2-related disorders. More... »

PAGES

525-529

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2016.163

DOI

http://dx.doi.org/10.1038/jhg.2016.163

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1032902006

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28077841


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22 schema:description Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs of compound heterozygous mutations, c.[151C>T];[1184T>G] and c.[707T>G];[594+1G>A], and a homozygous mutation, c.[500A>G];[500A>G], in a gene encoding asparaginyl-tRNA synthetase (NARS2) were also identified in the other three families. Mutations in genes encoding aminoacyl-tRNA synthetases cause gene-specific mitochondrial disorders. Biallelic PARS2 or NARS2 mutations are reported to cause Alpers’ syndrome, which is an autosomal recessive neurodegenerative disorder characterized by psychomotor regression and epilepsy with variable degree of liver involvement. Moreover, it is known that NARS2 mutations cause various clinical phenotypes, including non-syndromic hearing loss, Leigh syndrome, intellectual disability with epilepsy and severe myopathy. The individuals with PARS2 and NARS2 mutations, we have reported here demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type. Our data broaden the clinical and mutational spectrum of PARS2- and NARS2-related disorders.
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30 Biallelic PARS2
31 Leigh syndrome
32 NARS2 mutations
33 PARS2
34 aminoacyl-tRNA synthetases
35 asparaginyl-tRNA synthetase
36 autosomal recessive neurodegenerative disorder
37 clinical phenotype
38 clinical presentation
39 compound heterozygous mutations
40 data
41 degree
42 delay/regression
43 developmental delay/regression
44 disability
45 disorders
46 diversity
47 epilepsy
48 family
49 features
50 gene-specific mitochondrial disorders
51 genes
52 hearing loss
53 heterozygous mutations
54 homozygous mutation
55 individuals
56 infantile-onset developmental delay/regression
57 infantile-onset neurodegenerative disorder
58 intellectual disability
59 involvement
60 liver involvement
61 loss
62 mitochondrial disorders
63 mutational spectrum
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67 neurological features
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69 pairs
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73 psychomotor regression
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76 seizure types
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