Prevalent Founder Mutation c.736T>A of LIPH in Autosomal Recessive Woolly Hair of Japanese Leads to Variable Severity of Hypotrichosis in Adulthood

March 2012 in “ JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology ”

Kana Tanahashi, Kazumitsu Sugiura, Takuya Takeichi, Hiroyuki Takama, Satoru Shinkuma, Hiroshi Shimizu, Masashi Akiyama

autosomal recessive woolly hair ARWH hypotrichosis LIPH gene c.736T>A mutation c.742C>A mutation homozygous mutation compound heterozygous mutation woolly hair sparse scalp hair long hairs

TLDR A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.

The study investigated the clinical features and molecular basis of autosomal recessive woolly hair (ARWH) in five non-related Japanese families, including three adults and two children. All patients had woolly hair since birth, with four patients having homozygous c.736T>A mutations and one child having compound heterozygous c.736T>A and c.742C>A mutations. The severity of hypotrichosis varied, with two adults and two children having sparse scalp hair, while one adult woman exhibited mild hypotrichosis with long hairs. The findings indicated that some patients with homozygous c.736T>A mutations could have a mild hypotrichosis phenotype with long hairs in adulthood.

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