Abstract: OBJECTIVE: To identify the clinical characteristics and mutation of CDSN gene in a Chinese family with hypotrichosis simplex of the scalp (HSS) and to delineate pathogenesis for this pedigree. METHODS：The clinical data and blood samples of four patients and all unaffected relatives of the family were collected. Afterwards the genomic DNA was extracted. Then two exons of CDSN were amplified by PCR and the PCR products were subject to automatic DNA sequencing. Finally，the mutation analysis was performed by SeqMan software of DNASTAR and BLAST comparison. RESULTS：The disease-causing mutation of CDSN gene was not identified，but there were seven variant sequences found within the CDSN gene，four of which were the previously reported polymorphic sites and the other three were novel loci in our study. All variations did not co-segregate with disease-associated phenotype in this Chinese family with HSS. CONCLUSION：We could exclude the possibility of exon mutation of the CDSN gene leading to hypotrichosis simplex of the scalp for this Chinese pedigree .

Key words: hypotrichosis simplex of the scalp, CDSN gene, mutation analysis