ROGDI and angioosteohypertrophic syndrome: Additionally, the c.229_230del deletion variant (located in exon 4) and the intronic variant c.531 + 5G > C (located in intron 7) were identified in 4.5% and 13.6% of KTS cases, respectively, and the latter was predicted to disrupt the splice donor site of ROGDI, both resulting in LOF.