Abstract: 【Abstract】 Objective To report a patient with congenital hypotrichosis 14 complicated by hypergonadotropic hypogonadism, and to analyze LSS gene mutations in his family. Methods Peripheral blood samples were collected from the proband and his parents with normal phenotypes, and genomic DNA was extracted from these samples. Second-generation sequencing was performed to screen suspected mutations among hereditary hair disorder-associated genes. Possible causative genes were identified from the screened suspected variants based on clinical phenotypes, and verified using Sanger sequencing. The identified variants were also verified in healthy controls, and searched in the Human Gene Mutation Database, 1000 Genomes Project database, and ExAC database. Results The patient harbored a homozygous missense mutation c.812T>C （p.Ile271Thr） in exon 8 of the LSS gene, and his parents were the mutation carriers. The variant was not present in healthy controls and databases. Conclusion The homozygous mutation c.812T>C in the LSS gene may be the causative mutation for congenital hypotrichosis 14 in this family, which was a novel mutation that had not been reported before.

Key words: Hypotrichosis, DNA mutational analysis, Hypogonadism, Congenital hypotrichosis 14, Hereditary hypotrichosis simplex, LSS gene