关键词: 皮肤角化病, 掌跖； 桥粒斑蛋白质类； DNA突变分析； Carvajal综合征； 牙齿发育不良； 羊毛状发

Abstract: 【Abstract】 Objective To report a case of Carvajai syndrome caused by a spontaneous mutation in the desmoplakin （DSP） gene. Methods Clinical data were collected form a patient with Carvajal syndrome in Department of Dermatology, The First Affiliated Hospital of Zhengzhou University. Peripheral blood samples were obtained from the proband, his parents and 100 unrelated healthy controls, and blood genomic DNA was extracted. The ion torrent PGM second-generation sequencing platform was used to detect sequence variations in coding regions of exons in skin disease-related genes in the proband and his parents, and the pathogenic variation was verified by PCR-Sanger sequencing. Results The proband clinically presented with woolly hair, diffuse palmoplantar keratoderma, onychodysplasia, hypodontia and sinus arrhythmia as shown by electrocardiogram. Gene sequencing revealed a heterozygous missense mutation c.1790C>T （p.Ser597Leu） in exon 14 of the DSP gene in the proband, resulting in the substitution of serine by leucine at amino acid position 597. No mutation was identified in the proband′s parents or the 100 healthy controls, so the mutation in the proband is spontaneous. The patient was finally diagnosed with Carvajal syndrome according to the clinical manifestations, gene detection and auxiliary examination results. Conclusion The heterozygous missense mutation C.1790C>T （p.Ser597Leu） of the DSP gene may be the pathogenic mutation for the clinical phenotype of the patient.

Key words: Keratoderma, palmoplantar, Desmoplakins, DNA mutational analysis, Carvajal syndrome, Hypodontia, Woolly hair