STK36 – Temple-Baraitser Syndrome

A recent multi-patient study (PMID:27282200) reported a new case of Temple-Baraitser Syndrome in which a missense mutation in STK36 was identified. In this study, whole genome sequencing of a Lebanese proband revealed three missense mutations across different genes, with the STK36 variant (c.2131C>G (p.Arg711Gly)) representing the genetic evidence for this gene’s involvement in the syndrome. Although the mutation in STK36 was detected in a single proband (PMID:27282200), it contributes to a broader review suggesting that Temple-Baraitser Syndrome and related phenotypes may result from a continuum of genetic alterations. The molecular findings were supported by predictive in silico analyses that indicated a deleterious impact on protein function, although no direct functional assays specific to STK36 were reported.

The functional data available in the study primarily focused on other genes in the context of the syndrome, and direct experimental validation for the STK36 variant is currently limited. Nonetheless, the reported missense change is considered biologically plausible given the gene's role in cellular signaling pathways. In summary, while the genetic evidence for STK36 in Temple-Baraitser Syndrome remains limited with only one reported proband and no segregation data, it provides an important signal that may refine diagnostic decision-making and warrant further study. Key take‑home sentence: The STK36 variant reported here, although based on limited data, offers promising insights for future refinement of genetic diagnostics in Temple-Baraitser Syndrome.

References

• BMC Medical Genetics • 2016 • Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? PMID:27282200

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