ROGDI and angioosteohypertrophic syndrome: The c.201-1G > T intronic variant (located in exon 3) was identified in 6.8% of KTS cases, predicted to have disrupted the splice acceptor site in exon 4, resulting in LOF of ROGDI. In this study, we also identified a homozygous variant (c.46–37_46–30del) in intron 1, predicted to have disrupted the splice acceptor site in exon 2, causing complete LOF of ROGDI. The pathogenicity of the homozygous variant has been confirmed in a previous KTS patient, leaving no room for doubt.