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This summary evaluates the association between ZNF517 (HGNC:27984) and Temple-Baraitser Syndrome (MONDO_0012735). A recent case report described a Lebanese child diagnosed with Temple-Baraitser Syndrome who was found to harbor a missense mutation, reported as c.726>A, in ZNF517 (PMID:27282200). This finding represents the only instance so far where a variant in ZNF517 has been associated with the disorder, and the evidence is based solely on this single de novo event. The inheritance pattern observed in the proband is consistent with the autosomal dominant mode commonly seen in neurodevelopmental disorders.
While additional multi‐patient studies have implicated other genes such as KCNH1 and STK36 in the broader phenotypic spectrum of Temple-Baraitser and Zimmermann-Laband syndromes, the specific role of ZNF517 remains less clear. No segregation data from additional affected relatives or direct functional assays for ZNF517 have been presented, thereby limiting the overall genetic and experimental support for its involvement in the disorder. This constrained evidence underscores the need for further studies before ZNF517 can be established as a definitive contributor, but its report in a relevant clinical context offers an initial signal for future diagnostic and research efforts.
Gene–Disease AssociationLimitedAssociation based on a single de novo event in one proband with no additional segregation or replication studies (PMID:27282200). Genetic EvidenceLimitedOnly one missense variant (c.726>A) in ZNF517 has been reported in the context of Temple-Baraitser Syndrome, with no supporting case series or segregation data. Functional EvidenceLimitedNo direct functional assays or experimental studies have been reported to assess the impact of the ZNF517 variant on protein function. |