Same mutation, different disease: intrafamilial clinical and radiological diversity in HPRT1-related gout-the first family series from Türkiye.

doi:10.1007/s10067-026-08319-0

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Article

Same mutation, different disease: intrafamilial clinical and radiological diversity in HPRT1-related gout-the first family series from Türkiye.

Clinical rheumatology - 1 Sept 2026

Bilici Reyhan, Duymus Fahrettin, Atas Abdullah Enes, Celikdelen Selma Özlem

Abstract excerpt

OBJECTIVE: To describe clinical, radiological, biochemical, and genetic features in a multigenerational family with HPRT1-related gout and highlight intrafamilial phenotypic variation. METHODS: Seven family members underwent clinical, laboratory, radiological, and genetic evaluation. Clinical exome sequencing was performed in the index case, followed by targeted Sanger sequencing in available relatives....

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PMID: 42521954
DOI: 10.1007/s10067-026-08319-0

Genes

HPRT1

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