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

September 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

TLDR Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

In 2016, researchers discovered a new splice site mutation in the LIPH gene of a 4-year-old Japanese boy with autosomal recessive woolly hair (ARWH). Alongside a known missense mutation (c.736T>A) in exon 6, the boy also had a novel heterozygous mutation (c.417+1G>C) in intron 2. RT-PCR analysis showed that this new mutation led to abnormal splicing and a 144-bp deletion in exon 2, which likely results in the loss of an important N-terminal α-helix in the PA-PLA1α protein. This finding adds to the variety of LIPH mutations associated with ARWH.

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

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