Abstract: 【Abstract】 Objective To identify causative genes for autosomal recessive woolly hair （ARWH） in a family. Methods Clinical data were collected from two patients and other family members in a Chinese pedigree of Han nationality with ARWH. Peripheral blood samples were obtained from the two patients, their unaffected parents and 100 unrelated healthy individuals, and DNA was extracted from the blood samples. A next?generation skin?targeted sequencing panel was used to detect gene mutations in the patients, and Sanger sequencing was performed to verify the sequencing results. The function of protein encoded by the mutant gene was predicted. Results Two missense mutations c.530T>G（p.Leu177Arg）and c.736T>A（p.Cys246Ser） were both identified in the LIPH gene of the two patients, which were inherited from their father and mother respectively. Neither of the two mutations was identified in the 100 unrelated healthy controls. Interspecies sequence alignment showed that leucine at amino acid position 177 and cysteine at amino acid position 246 of the protein encoded by the LIPH gene were highly evolutionarily conserved. As SIFT and Polyphen?2 softwares showed, the mutations c.530T>G（p.Leu177Arg）and c.736T>A（p.Cys246Ser）were both predicted to be detrimental variations. Conclusion Two missense mutations c.530T>G（p.Leu177Arg）and c.736T>A（p.Cys246Ser）in the LIPH gene may contribute to the clinical phenotype of the two patients with ARWH in this family.

Key words: Sequence analysis, DNA, Mutation, missense, Autosomal recessive woolly hair, LIPH gene