Abstract: Objective: To report a patient with LEOPARD syndrome (LS) and detect the gene mutation. Methods: The data of the patient with LS were collected. Peripheral blood samples were obtained from the patient. Whole exome high-throughput sequencing, combined with mutation site detection and annotation interpretation system, was used to analyze the gene mutation in this patient. Results: A heterozygous missense mutation c.1415C>T (p.Thr472Met) was found in exon 12 of the PTPN11 gene in the patient. Conclusion: The mutations 1415C>T(p.Thr472Met) in the exon 12 of PTPN11 gene was the pathogenic mutation site in this case with LS.

Key words: LEOPARD syndrome, PTPN11, lentigines, gene mutation