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In a targeted sequencing study of 386 unrelated CHH individuals and 155 controls, heterozygous missense variants in FLRT3 were identified in 3 probands with Kallmann syndrome ([PMID:23643382]). The variants included c.1016A>G (p.Lys339Arg) and two additional missense changes, all absent from controls and population databases.
No family segregation or CHH-specific functional assays for FLRT3 were reported. Given the small proband count and absence of segregation or in vitro disease modeling, the overall clinical validity is Limited. Key take-home: FLRT3 is a candidate contributor to KS in an oligogenic FGFR1 pathway context, meriting further familial and mechanistic studies before routine diagnostic implementation.
Gene–Disease AssociationLimited3 probands with FLRT3 variants ([PMID:23643382]), no segregation or disease-specific functional validation Genetic EvidenceLimitedHeterozygous missense variants in 3 unrelated KS cases; absent in controls Functional EvidenceLimitedNo functional assays linking FLRT3 variants to CHH/KS pathogenesis |