Abstract:

Zang Dongjie*, Xu Xinghai, Zhou Cheng, Zhang Jianzhong, Hou Yanxia, Han Zhuang, Jiang Jing. *Department of Dermatology, Tianjin Nankai Hospital, Tianjin 300100, China Corresponding author: Jiang Jing, Email: pfkjiangjing@sina.com 【Abstract】 Objective To detect mutations in the PTPN11 gene in a family with LEOPARD syndrome （LS）. Methods Clinical data were collected from a 7-year-old boy patient with LS. Peripheral blood was obtained from the patient, both of his parents, and 50 healthy controls. All the exons and their flanking sequences of the PTPN11 gene were amplified by PCR followed by direct DNA sequencing. Results A heterozygous missense mutation c.836A > G, which resulted in a substitution of TAT by TGT at codon 279, was found in exon 7 of the PTPN11 gene in the patient. No mutation was detected in the unaffected parents or healthy controls. Conclusion The missense mutation c.836A > G may be the cause of the phenotype of LS in this family.