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AGPAT2 pathogenic variants have recently been implicated in neonatal diabetes mellitus (NDM) through a multi-gene cohort study. In this autosomal recessive condition, biallelic AGPAT2 variants were identified in at least two unrelated probands (PMID:39344692). No additional familial segregation data or diabetes-specific functional assays have been reported to date, and no recurrent or founder variants have been described in NDM. The mechanistic role of AGPAT2 in pancreatic β-cell development or insulin secretion remains uncharacterized in the context of NDM. Current genetic evidence is therefore limited, with observations confined to a single study and without experimental confirmation. Further case series, segregation analysis, and β-cell functional studies are required to establish a definitive gene-disease relationship. Key take-home: AGPAT2 should be considered a tentative NDM gene, but evidence is not yet sufficient for routine diagnostic inclusion.
Gene–Disease AssociationLimitedReported in a single cohort with ≥2 probands, no segregation or functional confirmation ([PMID:39344692]). Genetic EvidenceLimitedSingle study with two probands; autosomal recessive inheritance; no familial segregation or recurrent variants. Functional EvidenceLimitedNo diabetes-specific functional assays reported for AGPAT2 in neonatal diabetes. |