Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

September 2016 in “ Journal of Dermatological Science ”

Kana Tanahashi, Kazumitsu Sugiura, Michihiro Kono, Hiroyuki Takama, Nobuyuki Hamajima, Masashi Akiyama

LIPH gene autosomal recessive woolly hair hypotrichosis c.736T > A mutation c.742C > A mutation homozygous mutations compound heterozygous mutations allele frequencies carrier rates woolly hair baldness

Studysummary This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.

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