Ontology type: schema:ScholarlyArticle Open Access: True
2016-10-21
AUTHORSS. Lühl, H. Bode, W. Schlötzer, M. Bartsakoulia, R. Horvath, A. Abicht, M. Stenzel, J. Kirschner, S. C. Grünert
ABSTRACTBackgroundPontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein translation. A total of 27 patients from 14 families have been reported so far. Characteristic clinical features comprise neonatal lactic acidosis, severe encephalopathy, intractable seizures, feeding problems and profound developmental delay. Most patients show typical neuroradiologic abnormalities including cerebellar hypoplasia and progressive pontocerebellar atrophy.MethodsWe describe the clinical, biochemical and molecular features of 2 siblings with a novel homozygous mutation in RARS2. Both patients presented neonatally with lactic acidosis. While the older sibling had severe neurological symptoms with microcephaly, seizures and developmental delay, the younger patient was still neurologically asymptomatic at the age of 2 months.ResultsMRI studies in both children lacked pontocerebellar involvement. The expression of the OXPHOS complex proteins was decreased in both patients, whereas oxygen consumption was increased.ConclusionsCharacteristic neuroradiological abnormalities of PCH6 such as vermis and cerebellar hypoplasia and progressive pontocerebellar atrophy may be missing in patients with RARS2 mutations. RARS2 testing should therefore also be performed in patients without pontocerebellar hypoplasia but otherwise typical clinical symptoms. More... »
PAGES140
http://scigraph.springernature.com/pub.10.1186/s13023-016-0525-9
DOIhttp://dx.doi.org/10.1186/s13023-016-0525-9
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1043038194
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/27769281
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Medical and Health Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1199",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Other Medical and Health Sciences",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Arginine-tRNA Ligase",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Child, Preschool",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Infant",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Infant, Newborn",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Magnetic Resonance Imaging",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Mitochondrial Diseases",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Mutation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Olivopontocerebellar Atrophies",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Siblings",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, Germany",
"id": "http://www.grid.ac/institutes/grid.410712.1",
"name": [
"Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, Germany"
],
"type": "Organization"
},
"familyName": "L\u00fchl",
"givenName": "S.",
"id": "sg:person.010210772025.48",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010210772025.48"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, Germany",
"id": "http://www.grid.ac/institutes/grid.410712.1",
"name": [
"Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, Germany"
],
"type": "Organization"
},
"familyName": "Bode",
"givenName": "H.",
"id": "sg:person.01303745447.03",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303745447.03"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Diagnostic and Interventional Radiology, Section Neuroradiology, University Medical Center, Ulm, Germany",
"id": "http://www.grid.ac/institutes/grid.410712.1",
"name": [
"Department of Diagnostic and Interventional Radiology, Section Neuroradiology, University Medical Center, Ulm, Germany"
],
"type": "Organization"
},
"familyName": "Schl\u00f6tzer",
"givenName": "W.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK",
"id": "http://www.grid.ac/institutes/grid.1006.7",
"name": [
"John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"
],
"type": "Organization"
},
"familyName": "Bartsakoulia",
"givenName": "M.",
"id": "sg:person.01127624605.90",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127624605.90"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK",
"id": "http://www.grid.ac/institutes/grid.1006.7",
"name": [
"John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"
],
"type": "Organization"
},
"familyName": "Horvath",
"givenName": "R.",
"id": "sg:person.0603263021.30",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0603263021.30"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Medical Genetics Centre, Munich, Germany",
"id": "http://www.grid.ac/institutes/None",
"name": [
"Medical Genetics Centre, Munich, Germany"
],
"type": "Organization"
},
"familyName": "Abicht",
"givenName": "A.",
"id": "sg:person.01216167275.68",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01216167275.68"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatric Radiology, Kliniken der Stadt K\u00f6ln, K\u00f6ln, Germany",
"id": "http://www.grid.ac/institutes/grid.461712.7",
"name": [
"Department of Pediatric Radiology, Kliniken der Stadt K\u00f6ln, K\u00f6ln, Germany"
],
"type": "Organization"
},
"familyName": "Stenzel",
"givenName": "M.",
"id": "sg:person.0636046542.66",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636046542.66"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, Freiburg, Germany",
"id": "http://www.grid.ac/institutes/grid.7708.8",
"name": [
"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, Freiburg, Germany"
],
"type": "Organization"
},
"familyName": "Kirschner",
"givenName": "J.",
"id": "sg:person.0717435623.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717435623.02"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center \u2013 University of Freiburg, Faculty of Medicine, Freiburg, Germany",
"id": "http://www.grid.ac/institutes/grid.7708.8",
"name": [
"Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center \u2013 University of Freiburg, Faculty of Medicine, Freiburg, Germany"
],
"type": "Organization"
},
"familyName": "Gr\u00fcnert",
"givenName": "S. C.",
"id": "sg:person.01054073227.68",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01054073227.68"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/jhg.2015.31",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036297558",
"https://doi.org/10.1038/jhg.2015.31"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s11011-016-9827-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049320681",
"https://doi.org/10.1007/s11011-016-9827-9"
],
"type": "CreativeWork"
}
],
"datePublished": "2016-10-21",
"datePublishedReg": "2016-10-21",
"description": "BackgroundPontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein translation. A total of 27 patients from 14 families have been reported so far. Characteristic clinical features comprise neonatal lactic acidosis, severe encephalopathy, intractable seizures, feeding problems and profound developmental delay. Most patients show typical neuroradiologic abnormalities including cerebellar hypoplasia and progressive pontocerebellar atrophy.MethodsWe describe the clinical, biochemical and molecular features of 2 siblings with a novel homozygous mutation in RARS2. Both patients presented neonatally with lactic acidosis. While the older sibling had severe neurological symptoms with microcephaly, seizures and developmental delay, the younger patient was still neurologically asymptomatic at the age of 2\u00a0months.ResultsMRI studies in both children lacked pontocerebellar involvement. The expression of the OXPHOS complex proteins was decreased in both patients, whereas oxygen consumption was increased.ConclusionsCharacteristic neuroradiological abnormalities of PCH6 such as vermis and cerebellar hypoplasia and progressive pontocerebellar atrophy may be missing in patients with RARS2 mutations. RARS2 testing should therefore also be performed in patients without pontocerebellar hypoplasia but otherwise typical clinical symptoms.",
"genre": "article",
"id": "sg:pub.10.1186/s13023-016-0525-9",
"inLanguage": "en",
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.6503018",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2782091",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1036535",
"issn": [
"1750-1172"
],
"name": "Orphanet Journal of Rare Diseases",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "11"
}
],
"keywords": [
"RARS2 mutations",
"pontocerebellar atrophy",
"lactic acidosis",
"cerebellar hypoplasia",
"developmental delay",
"characteristic clinical features",
"typical clinical symptoms",
"severe neurological symptoms",
"profound developmental delay",
"novel homozygous mutation",
"RARS2 gene",
"neuroradiologic abnormalities",
"neuroradiological abnormalities",
"most patients",
"younger patients",
"clinical features",
"neurological symptoms",
"clinical symptoms",
"intractable seizures",
"patients",
"phenotypic spectrum",
"type 6",
"transfer RNA synthetase",
"neonatal lactic acidosis",
"hypoplasia",
"homozygous mutation",
"pontocerebellar hypoplasia",
"atrophy",
"seizures",
"acidosis",
"oxygen consumption",
"molecular features",
"symptoms",
"abnormalities",
"RARS2",
"older siblings",
"siblings",
"RNA synthetase",
"mitochondrial disease",
"mutations",
"mitochondrial protein translation",
"vermis",
"MethodsWe",
"disease",
"protein translation",
"microcephaly",
"months",
"PCH6",
"age",
"total",
"children",
"involvement",
"complex proteins",
"expression",
"testing",
"protein",
"genes",
"study",
"delay",
"enzyme",
"synthetase",
"features",
"family",
"consumption",
"translation",
"expansion",
"problem",
"spectra"
],
"name": "Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia \u2013 further expansion of the phenotypic spectrum",
"pagination": "140",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1043038194"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1186/s13023-016-0525-9"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"27769281"
]
}
],
"sameAs": [
"https://doi.org/10.1186/s13023-016-0525-9",
"https://app.dimensions.ai/details/publication/pub.1043038194"
],
"sdDataset": "articles",
"sdDatePublished": "2022-05-10T10:13",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220509/entities/gbq_results/article/article_711.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1186/s13023-016-0525-9"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s13023-016-0525-9'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13023-016-0525-9'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13023-016-0525-9'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13023-016-0525-9'
This table displays all metadata directly associated to this object as RDF triples.
260 TRIPLES
22 PREDICATES
108 URIs
98 LITERALS
19 BLANK NODES