Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

In a 2018 case report, researchers investigated a 3-year-old Japanese boy with autosomal recessive woolly hair/hypotrichosis (ARWH) and identified a compound heterozygous mutation in the LIPH gene. This included a previously known founder mutation c.736T>A (p.Cys246Ser) and a novel splice site mutation c.1095-3C>G. The novel mutation was demonstrated to cause a frame-shift and premature termination codon (p.Glu366llefs*7) in the protein, as shown by an in vitro transcription assay. This was the first report of the c.1095-3C>G mutation, which was deemed pathological and responsible for the patient's condition. The study also reviewed other mutations in the LIPH gene found in the Japanese population, emphasizing that most ARWH patients carry one of two founder mutations. These findings enhance the understanding of ARWH's genetic causes and could inform future diagnostic and therapeutic approaches.