Familial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association

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dc.contributor.authorGemici, Yagmur Inalkac
dc.contributor.authorEkici, Cemal
dc.contributor.authorBatum, Melike
dc.contributor.authorAkbostanci, Cenk
dc.contributor.authorKoc, Ahmet
dc.contributor.authorMavioglu, Hatice
dc.date.accessioned2026-04-04T13:33:28Z
dc.date.available2026-04-04T13:33:28Z
dc.date.issued2024
dc.departmentİnönü Üniversitesi
dc.description.abstractObjectives We describe the clinical pictures of an index case with dystonia and his family resulting from VPS16 and MEFV genetic variations based on previously published data and discuss the mechanisms that may have brought out the clinical findings. Methods A 17-year-old male had generalized dystonia that started at age 6 years, non-febrile abdominal pain attacks and was diagnosed with type 1 diabetes at age 14 years. Meanwhile, his 13-year-old sister had the same clinical presentation. His father was diabetic and his mother was asymptomatic. There was no consanguinity between the parents. Genetic variations were detected with whole exome sequencing. Results VPS16 c.1513C>T/p.Arg505* (likely pathogenic), MEFV c.2080A>G p.Met694val (pathogenic) and MEFV c.1772T>C p.Ile591Thr (unknown significance) heterozygous variants were detected in his siblings. The father had VPS16 c.1513C>T/p.Arg505* and MEFV c.2080A>G p Met694val variations and the mother had MEFV c.1772T>C p.Ile591Thr variations. Conclusions The occurrence of these diseases in siblings but their absence in the parents suggests the idea that the coexistence of two separate variations in the VPS16 and MEFV genes determines the phenotype. In addition, the increase in MEFV variation load in this family and the fact that DM occurs at an earlier age suggest that inflammation may cause an early diabetic clinical presentation.
dc.identifier.doi10.1093/rap/rkae083
dc.identifier.issn2514-1775
dc.identifier.issue3
dc.identifier.orcid0000-0001-5808-5121
dc.identifier.orcid0000-0003-1872-3138
dc.identifier.pmid39055541
dc.identifier.scopus2-s2.0-85199991740
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1093/rap/rkae083
dc.identifier.urihttps://hdl.handle.net/11616/109179
dc.identifier.volume8
dc.identifier.wosWOS:001276877500002
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherOxford Univ Press
dc.relation.ispartofRheumatology Advances in Practice
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250329
dc.subjectdystonia
dc.subjectdiabetes mellitus
dc.subjectFMF
dc.subjectMEFV
dc.subjectVPS16
dc.titleFamilial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association
dc.typeArticle

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