A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype

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dc.authoridSılan, Fatma/0000-0001-7191-2240
dc.authoridCETIN, HURIYE/0000-0002-7911-9981
dc.authoridCokyaman, Turgay/0000-0002-7108-6839
dc.contributor.authorCokyaman, Turgay
dc.contributor.authorCetin, Huriye
dc.contributor.authorDogan, Durmus
dc.contributor.authorSılan, Fatma
dc.date.accessioned2025-01-27T21:03:37Z
dc.date.available2025-01-27T21:03:37Z
dc.date.issued2022
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractNARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.
dc.identifier.doi10.1093/tropej/fmac108
dc.identifier.issn0142-6338
dc.identifier.issn1465-3664
dc.identifier.issue1
dc.identifier.pmid36661119
dc.identifier.scopus2-s2.0-85146592900
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1093/tropej/fmac108
dc.identifier.urihttps://hdl.handle.net/20.500.12428/27374
dc.identifier.volume69
dc.identifier.wosWOS:000916981400001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherOxford Univ Press
dc.relation.ispartofJournal of Tropical Pediatrics
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectNARS2
dc.subjectepilepsy
dc.subjectmitochondrial disease
dc.subjectwhole-exome sequencing
dc.titleA new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype
dc.typeArticle

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