Two sibling cases of spastic paraplegia-45 with a novel pathogenic variant in NT5C2 gene: Concomitant RYR1 gene in one sibling

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dc.contributor.authorİpek, Rojan
dc.contributor.authorKömür, Mustafa
dc.contributor.authorDirek, Meltem Çobanoğulları
dc.contributor.authorBozdoǧan, Sevcan Tuğ
dc.contributor.authorOkuyaz, Çetin
dc.date.accessioned2024-04-24T17:14:30Z
dc.date.available2024-04-24T17:14:30Z
dc.date.issued2024
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractIntroduction: Hereditary spastic paraplegia (SPG) is a genetically and clinically heterogeneous group of rare neurodegenerative disorders. SPG45 is the AR inherited type of complicated SPG, which is due to a mutation in the NT5C2 gene. Case Presentation: Two sisters, aged 8 and 4, exhibited delayed motor development since early childhood. They also experienced learning difficulties, dysarthric speech, ataxia, nystagmus, strabismus, and spasticity in their extremities. Additionally, brisk deep tendon reflexes were observed in their upper and lower limbs, and they exhibited positive pathological reflexes. Whole-exome sequencing identified a previously unidentified homozygous mutation in the NT5C2 gene, leading to the diagnosis of SPG45 in both siblings. A mutation in the RYR1 gene associated with malignant hyperthermia was also detected in one of the siblings, necessitating ongoing monitoring. Discussion/Conclusion: To the best of our knowledge, we report the first case of a patient with coexistence of the NT5C2 gene and the RYR1 gene.en_US
dc.identifier.citationİpek, R., Kömür, M., Direk, M. Ç., Bozdoǧan, S. T. ve Okuyaz, Ç. (2024). Two sibling cases of spastic paraplegia-45 with a novel pathogenic variant in NT5C2 gene: Concomitant RYR1 gene in one sibling. Molecular Syndromology, 15(4), 297-302.
dc.identifier.doi10.1159/000536183
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.scopus2-s2.0-85186708665
dc.identifier.scopusqualityQ4
dc.identifier.urihttps://doi.org/10.1159/000536183
dc.identifier.urihttps://hdl.handle.net/11468/18000
dc.identifier.wosWOS:001181902700001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHereditary spastic paraplegiaen_US
dc.subjectInfanten_US
dc.subjectSpg45en_US
dc.subjectRyr1 Geneen_US
dc.titleTwo sibling cases of spastic paraplegia-45 with a novel pathogenic variant in NT5C2 gene: Concomitant RYR1 gene in one siblingen_US
dc.titleTwo sibling cases of spastic paraplegia-45 with a novel pathogenic variant in NT5C2 gene: Concomitant RYR1 gene in one sibling
dc.typeArticleen_US

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