Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome

Objective To detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS). Methods Peripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing. Results The neonates were found to respectively carry mutations c. 7219C>T and p. D2339Lfs*4 of the NIPBL gene, among which the p. D2339Lfs*4 mutation has not been reported previously. No pathogenic mutation was found in other CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Conclusion The c. 7219C>T and p. D2339Lfs*4 mutations of the NIPBL gene probably account for the disease in both patients. Key words: Cornelia de Lange syndrome; NIPBL gene; Mutation