Novel Small-Insertion Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis

The study described a 32-year-old woman with autosomal recessive woolly hair/hypotrichosis (ARWH/H), a rare congenital alopecia. Using next-generation and Sanger sequencing, researchers identified a novel frame-shift mutation (NM_139248: c.686delinsGTAGAACCCAACCTGGCT: p.Asp229fs37X) and a previously reported mutation (NM_139248: exon6:c.T736A: p.C246S) in the LIPH gene. Hair microscopy revealed abnormal hair appearance. The findings expanded the known mutation spectrum of the LIPH gene and highlighted similarities in ARWH between Chinese and Japanese populations. No conflicts of interest were declared.