Identification of 736T>A Mutation of Lipase H in Japanese Siblings with Autosomal Recessive Woolly Hair
February 2011
in “
Journal of dermatology
”
New to Serine? There is a guide in the encyclopedia. Read the guide → Studysummary This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
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The study identified a homozygous 736T>A mutation in the LIPH gene in two Japanese siblings with autosomal recessive woolly hair (ARWH). This mutation, which changes cysteine at position 246 to serine, was not found in the LPAR6 gene. The same mutation was also present in one out of 100 alleles of healthy Japanese controls and homozygously in three out of four other Japanese sporadic cases with woolly hair. This suggested that the 736T>A transition was highly specific and common in ARWH/hypotrichosis of Japanese origin.
