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The relationship between SF1 (HGNC:12950) and multiple endocrine neoplasia type 1 (MEN1) (MONDO_0007540) remains disputed. Initial candidate gene investigations in the MEN1 locus considered SF1—formerly known as ZFM1—as a potential contributor given its genomic localization in the 11q13 region. However, subsequent mutation screening in a cohort of 64 unrelated MEN1 patients detected a 6‐bp deletion (c.1436_1441del (p.Pro479_Pro480del)) in one patient, but this variant did not co‑segregate with the disease in the corresponding family (PMID:9150722).
Genetic and segregation evidence overall is limited, and the absence of supportive familial cosegregation, along with negative findings in comprehensive scanning studies, refutes a role for SF1 as a causative gene for MEN1. In addition, functional studies employing several complementary assays (SSCP, DNA sequencing, northern blotting, Southern blotting, and pulsed field gel electrophoresis) have consistently failed to demonstrate alterations in SF1 that correlate with the MEN1 phenotype (PMID:9150722). Collectively, these data do not support clinical utility for SF1 mutation screening in MEN1 diagnostic workflows.
Gene–Disease AssociationDisputedMultiple studies have failed to demonstrate a pathogenic role for SF1 (formerly ZFM1) in MEN1. A 6‑bp deletion identified in one proband did not segregate with disease in the corresponding family (PMID:9150722). Genetic EvidenceLimitedThe genetic evidence is limited to a single identified variant that does not show familial segregation, thereby not meeting criteria for a definitive genetic association (PMID:9150722). Functional EvidenceLimitedExtensive functional assessments, including mutation screening and multiple experimental assays, have not supported a pathogenic role for SF1 in MEN1, further weakening the genetic association (PMID:9150722). |