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This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.

This study suggested that differences in hair follicle development, indicated by the frequency of underdeveloped hairs, significantly contribute to the variation in hair loss severity among Japanese individuals with the LIPH c.736T>A mutation.

This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

LIPH mutations cause woolly hair in some Chinese people.