DNAH1 and angioosteohypertrophic syndrome: In this study, we investigated five Chinese patients with KTS and identified 10 KTS-associated variants that overlapped in six causative genes, namely, CCDC40, DNAH1, DNAH5, DNAH11, DNAI1, and LRRC6. Compound heterozygous mutations were found in DNAH1 and DNAH5. Further analyses showed that the NOTCH pathway might be activated in patients with KTS.