SYT9 – Maturity-Onset Diabetes of the Young

The association between SYT9 and maturity‑onset diabetes of the young is supported by limited genetic evidence. A candidate gene study using whole‑exome sequencing in Korean MODY families identified a single occurrence of the variant c.559C>G (p.Gln187Glu) in one family among six probands (PMID:25765181). This rare missense variant, altering a highly conserved residue, was detected in an autosomal dominant context typical of MODY, yet its segregation with disease remains minimally documented. Notably, an earlier sequencing study of beta cell candidate genes did not observe pathogenic mutations in SYT9 (PMID:20065546), adding uncertainty to the overall association.

Functional data that directly implicates SYT9 in beta‑cell dysfunction is currently sparse. Although related studies in other contexts have linked SYT9 to insulin secretion and cellular differentiation, no targeted biochemical or cellular assays have yet confirmed a pathogenic mechanism for SYT9 in MODY (PMID:25765181). Overall, the current evidence points to a limited but potentially plausible association between SYT9 and maturity‑onset diabetes of the young. Key take‑home: While SYT9 emerges as a candidate gene for MODY, additional segregation and functional validation are required to firmly establish its clinical utility in diagnostic decision‑making and commercial applications.

References

• Hormone Research in Paediatrics • 2015 • Identification of Candidate Gene Variants in Korean MODY Families by Whole‑Exome Sequencing PMID:25765181
• JOP: Journal of the Pancreas • 2010 • Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology PMID:20065546

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