TLDR The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
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.
253 citations
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April 2009 in “Journal of Biological Chemistry” p2y5, now called LPA6, is a receptor important for human hair growth.
210 citations
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February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
194 citations
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November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
June 2001 in “European Journal of Dermatology” A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
17 citations
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January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
