Abstract: Objective: To detect the gene mutation in a child affected with Bjornstad syndrome. Methods: DNA was extracted from 2 mL peripheral blood in the patient， his unaffected parents and 100 healthy controls. The gene mutations were detected by skin targeted sequencing panel and Sanger sequencing method. Results: A deletion mutation c.818delC in exon 7 and a missense mutation c.917G>Ain exon 8 of the BCS1L gene were detected in the patient and his parents. No mutation was identified in 100 controls. Conclusion: BCS1L gene mutations  may be associated with Bjornstad syndrome.

Key words: Bjornstad syndrome, BCS1L gene