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A recent candidate gene study involving 135 anorexia nervosa patients identified rare variants in multiple candidate genes, including GFRAL (PMID:38112957). Although specific variant details (e.g., a complete coding change in HGVS format) were not provided for GFRAL, the inclusion of this gene in a targeted panel suggests a potential contribution to the disorder. The study did not report clear segregation data or recurrence counts, which limits the strength of the genetic evidence. Preliminary pathway analyses hint at a role for GFRAL in appetite regulation, supporting a pathogenic mechanism that is consistent with an autosomal dominant effect, albeit with incomplete penetrance. Overall, while functional assessments remain in early stages and detailed experimental data are lacking, the observations provide preliminary support for considering GFRAL in comprehensive diagnostic panels for anorexia nervosa. Key take‑home sentence: Despite limited replication and segregation data, emerging evidence on GFRAL encourages further functional and clinical studies to assess its utility as a molecular marker for anorexia nervosa.
Gene–Disease AssociationLimitedA single candidate gene study in 135 patients detected rare GFRAL variants without detailed segregation or replication data (PMID:38112957). Genetic EvidenceLimitedGFRAL was identified as part of a multi‐gene panel with no explicit variant-level or recurrence information provided. Functional EvidenceLimitedPreliminary pathway analyses suggest a potential impact on appetite regulation; however, targeted functional assays for GFRAL remain sparse. |