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Limited clinical evidence supports an association between PRR12 and neuroocular syndrome. A single 11-year-old patient harbored a novel de novo frameshift variant c.1549_1568del (p.Pro517AlafsTer35) consistent with haploinsufficiency and presented with intellectual disability (HP:0001249), short stature (HP:0004322), mild scoliosis, and attention deficit hyperactivity disorder (HP:0007018) (PMID:38798311). No additional familial segregation or recurrent variants have yet been reported.
Functional characterization is limited to expression and localization studies demonstrating nuclear PRR12 expression in neural tissues, without patient-derived cellular or animal models to confirm pathogenic mechanisms. Additional reports and functional assays are needed to establish definitive disease causality. Identification of PRR12 variants should be considered in diagnostic gene panels for early-onset neurodevelopmental and ocular syndromes.
Gene–Disease AssociationLimitedSingle proband with de novo LoF variant consistent with haploinsufficiency ([PMID:38798311]); no segregation or replication Genetic EvidenceLimitedOne LoF variant in a single proband; no additional cases or segregation Functional EvidenceLimitedExpression/localization studies only; no functional patient models |