A Novel Splice Site Mutation in LIPH Identified in a Japanese Patient with Autosomal Recessive Woolly Hair

August 2016 in “ Journal of Investigative Dermatology ”

Akio Tanaka, Yoshimi Matsuo, Yutaka Shimomura, Michihiro Hide

LIPH gene autosomal recessive woolly hair splice site mutation missense mutation exon 6 intron 2 RT-PCR analysis abnormal splicing N-terminal α-helix PA-PLA1α protein woolly hair RT-PCR

Studysummary 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.

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