Publication
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant
| dc.contributor.author | Pereira, Sandra | |
| dc.contributor.author | Adrião, Mariana | |
| dc.contributor.author | Sampaio, Mafalda | |
| dc.contributor.author | Basto, Margarida Ayres | |
| dc.contributor.author | Rodrigues, Esmeralda | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.contributor.author | Teles, Elisa Leão | |
| dc.contributor.author | Alonso, Isabel | |
| dc.contributor.author | Leão, Miguel | |
| dc.date.accessioned | 2019-03-21T14:22:45Z | |
| dc.date.available | 2019-03-21T14:22:45Z | |
| dc.date.issued | 2018-02-25 | |
| dc.description | Research report | pt_PT |
| dc.description | Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226392/ | pt_PT |
| dc.description.abstract | Introduction: Combined oxidative phosphorylation deficiency 20 (COXPD20) is a mitochondrial respiratory chain complex (RC) disorder, caused by disease-causing variants in the VARS2 gene, which encodes a mitochondrial aminoacyl-tRNA synthetase. Here we describe a patient with fatal mitochondrial encephalopathy caused by a homozygous VARS2 gene missense variant. Case Report: We report the case of a girl, the first child of non-consanguineous and healthy parents, born from an uneventful term pregnancy, who presented, in the neonatal period, major hypotonia and microcephaly. At 4 months of age she showed poor eye contact, nystagmus, global psychomotor development delay and failure to thrive, without dysmorphic features. Focal seizures started at 24 months which evolved to a severe epileptic encephalopathy and finally to super refractory status epilepticus, leading to her death at 28 months of age. Etiologic investigation encompassing metabolic and genetic causes failed to disclose a diagnosis. Post-mortem exome sequencing allowed the identification of a pathogenic variant in VARS2 gene in the homozygous state (c.1100C > T, p.Thr367Ile) in the patient, inherited from her heterozygous parents, leading to the diagnosis of COXPD2. Conclusion: To the best of our knowledge, this is the fifth case described in the literature of a child with disease-causing variant in VARS2. With this report we expand the knowledge about the phenotype associated with this very rare mitochondrial defect, further emphasizing the use of exome sequencing as a very powerful diagnostic tool. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | JIMD Rep. 2018;42:113-119. doi: 10.1007/8904_2018_89. Epub 2018 Feb 25 | pt_PT |
| dc.identifier.doi | 10.1007/8904_2018_89 | pt_PT |
| dc.identifier.issn | 2192-8304 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6265 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Springer/ Society for the Study of Inborn Errors of Metabolism (SSIEM) | pt_PT |
| dc.relation.publisherversion | https://link.springer.com/chapter/10.1007%2F8904_2018_89 | pt_PT |
| dc.subject | Amino Acyl | pt_PT |
| dc.subject | Exome Sequencing | pt_PT |
| dc.subject | Mitochondrial diseases | pt_PT |
| dc.subject | Mitochondrial Encephalopathy | pt_PT |
| dc.subject | RNA | pt_PT |
| dc.subject | Severe Epileptic Encephalopathy | pt_PT |
| dc.subject | Transfer | pt_PT |
| dc.subject | VARS2 gene | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 119 | pt_PT |
| oaire.citation.startPage | 113 | pt_PT |
| oaire.citation.title | JIMD Reports | pt_PT |
| oaire.citation.volume | 42 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | article | pt_PT |