Objective To explore the genetic basis for a neonate with bloody stool and thrombocytopenia. Methods Clinical data of the neonate was collected. Peripheral venous blood samples were extracted from the neonate and his parents. Next generation sequencing through target capturing was carried out to detect potential mutations of genes associated with thrombocytopenia. Suspected mutation was validated by Sanger sequencing. Results The 14-day-old male neonate was admitted to hospital for bloody stool for 8 days, decreased platelet count and reduced platelet volume. His liver function and blood coagulation were both normal. Genetic testing revealed a novel deletional mutation in c. 1221delG （G407fsX444） of the WAS gene in the patient, which was inherited from his mother. Conclusion The c. 1221delG （G407fsX444） mutation of the WAS gene probably underlies the X-linked thrombocytopenia in the proband. Next generation sequencing can facilitate the diagnose and genetic counseling of such diseases.
Chinese Journal of Medical Genetics