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Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood

✍ Scribed by K. Tanahashi; K. Sugiura; T. Takeichi; H. Takama; S. Shinkuma; H. Shimizu; M. Akiyama

Book ID: 119853079
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 149 KB
Volume: 27
Category: Article
ISSN: 0926-9959
DOI: 10.1111/j.1468-3083.2012.04526.x

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Autosomal recessive hypotrichosis (ARH) is characterized by sparse hair on the scalp without other abnormalities. Three genes, DSG4, LIPH, and LPAR6 (P2RY5), have been reported to underlie ARH. We performed a mutation search for the three candidate genes in five independent Japanese ARH families and