Novel Variants in F10 and DMGDH Genes in a Child with Mild Factor X Deficiency and Familial Episodic Pain Syndrome

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dc.contributor.authorCakmak, H. M.
dc.date.accessioned2026-07-01T11:40:19Z
dc.date.available2026-07-01T11:40:19Z
dc.date.issued2026
dc.departmentDüzce Üniversitesi
dc.description.abstractPurpose: To describe the clinical, laboratory, genetic, and familial features of a child with mild factor X deficiency and associated multisystem findings. Methods: A 6-year-old boy with daily epistaxis underwent coagulation testing, family evaluation, pedigree analysis, and exome sequencing. Findings: Prothrombin time was prolonged, activated partial thromboplastin time was normal, and factor X activity was 20.3%. The father and sister also had prolonged prothrombin time, supporting familial inheritance. Exome sequencing identified a novel heterozygous F10 variant, F10 (NM_000504.4):c.785G>A, p.(Gly262Asp), classified as likely pathogenic. Additional variants were detected in DMGDH, TRPA1, and TNFRSF13B, correlating with fish-like odor with muscle fatigue and familial episodic pain. No immunological work-up, including serum immunoglobulin measurements, was available in this report; therefore, the TNFRSF13B finding was interpreted cautiously and was not considered diagnostic of CVID or another primary immunodeficiency. Pedigree analysis showed recurrent bleeding and episodic pain on the paternal side. Conclusions: This case expands the molecular spectrum of F10-related disease and supports exome-based evaluation in families with bleeding and multisystem phenotypes when routine coagulation studies and family history suggest a broader inherited disorder in affected relatives.
dc.identifier.endpage100
dc.identifier.issn1013-9923
dc.identifier.issue1
dc.identifier.scopus2-s2.0-105036658346
dc.identifier.scopusqualityQ4
dc.identifier.startpage96
dc.identifier.urihttps://hdl.handle.net/20.500.12684/23758
dc.identifier.volume31
dc.identifier.wosWOS:001752661900006
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.institutionauthorCakmak, H. M.
dc.language.isoen
dc.publisherMedcom Ltd
dc.relation.ispartofHong Kong Journal of Paediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20260623
dc.subject[Keyword Not Available]
dc.titleNovel Variants in F10 and DMGDH Genes in a Child with Mild Factor X Deficiency and Familial Episodic Pain Syndrome
dc.typeArticle

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