Identification of 736T>A Mutation of Lipase H in Japanese Siblings with Autosomal Recessive Woolly Hair

Researchers identified a homozygous 736T>A mutation in the LIPH gene in two Japanese siblings with autosomal recessive woolly hair (ARWH). This mutation, which changes cysteine at position 246 to serine, was not found in the LPAR6 gene. The same mutation was also present in 1 out of 100 alleles of healthy Japanese controls and homozygously in 3 out of 4 other Japanese sporadic cases with woolly hair. This study suggested that the 736T>A mutation is highly specific and common in ARWH/hypotrichosis among the Japanese population.