Abstract:

Xu Guiwen*, Yin Jinghua, Wang Huijun, Zhou Yun, Zhang Jie, Chen Guanzhi, Lin Zhimiao, Yang Yong, Tang Zhanli. *Department of Dermatology, Peking University First Hospital, Beijing 100034, China Corresponding author: Tang Zhanli, Email: tzldyx2012@163.com 【Abstract】 Objective To detect mutations in the SPINK5 gene in a patient with Netherton syndrome. Methods Clinical data were collected from a male patient with Netherton syndrome. Peripheral blood samples were obtained from the patient, his relatives and 200 healthy human controls. DNA was extracted from these samples, and PCR was performed to amplify all the exons and their flanking sequences in the coding region of the SPINK5 gene followed by DNA sequencing. Results Direct sequencing revealed a heterozygous nonsense mutation （c.1111C > T） in exon 13 of the SPINK5 gene, which leads to the formation of a premature termination codon at amino acid position 371 （p.R371X）, as well as a heterozygous mutation （c.3121C > T） in exon 32 of the SPINK5 gene, which leads to a missense mutation at amino acid position 1041 （p.R1041C）, in the patient. His healthy parents were heterozygous carriers of the two mutations, whereas neither of the two mutations was found in the unrelated healthy controls. Conclusion The composite heterozygous mutations p.R371X and p.R1041C in the SPINK5 gene may be partially responsible for the clinical manifestation of Netherton syndrome in this patient.