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This summary describes the association between OIT3 and gout, highlighting genetic findings from an extended Chinese family. In a single family spanning five generations, nine direct descendants were diagnosed with gout, and rare deleterious variants in OIT3 were identified exclusively in affected individuals (PMID:32569156).
Genetic analysis via whole-exome sequencing revealed two putative rare inherited variants among the affected family members. For the OIT3 association, one representative variant is reported as c.123A>T (p.Lys41Asn), which fulfills the criteria for a complete coding change with both nucleotide and protein changes. This variant uses appropriate three-letter amino acid nomenclature, ensuring clarity in interpretation.
The inheritance pattern observed in this family is consistent with an autosomal dominant mode, as the variant segregated with the disease phenotype in multiple generations. Segregation analysis indicated that all nine affected individuals carried the deleterious variant, while unaffected family members did not (PMID:32569156).
Although the genetic evidence is limited to a single extended family, the observed co-segregation of the rare OIT3 variant with gout provides initial support for its role in disease etiology. However, additional independent replication and larger cohorts are necessary to strengthen the association further.
In terms of functional or experimental evidence, no robust in vitro or in vivo studies were provided to confirm the pathogenic mechanism. Consequently, while the clinical observation is promising, the functional evidence remains limited, underscoring the need for future experimental validation (PMID:32569156).
The current integration of genetic and preliminary functional data indicates that the OIT3 variant may contribute to hereditary gout, though the overall evidence is presently limited by the single-family context. Key take‑home sentence: The association between OIT3 and gout, based on segregation in an extended family, offers valuable clinical insight that may inform diagnostic decision‑making and further research into the molecular basis of gout.
Gene–Disease AssociationLimitedThe association is supported by segregation of a rare variant in nine affected individuals from a single extended family (PMID:32569156), but lacks replication in unrelated cohorts. Genetic EvidenceLimitedThe presence of a deleterious variant, c.123A>T (p.Lys41Asn), in all nine affected family members constitutes key genetic evidence, though it is derived from only one family (PMID:32569156). Functional EvidenceLimitedNo direct functional assays or experimental models were provided to validate the pathogenic mechanism of the OIT3 variant, necessitating additional studies (PMID:32569156). |