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Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis

  • Angela M. Christiano

      Affiliations

    • Departments of Dermatology, Columbia University, New York, NY, United States
    • Department of Genetics & Development, Columbia University, New York, NY, United States
    • Corresponding Author InformationCorrespondence address: Department of Dermatology, Columbia University, College of Physicians & Surgeons, 630 West 168th Street VC-15, New York, New York 10032, United States. Tel.: +1 212 305 9565; fax: +1 212 305 7391.

Received 3 July 2009 Published online 12 July 2010 Corrected Proof

References 

  1. Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, et al. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science. 2006;314:982–985
  2. Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, et al. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet. 2008;40:335–339
  3. Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009;129:622–628
  4. Sonoda H, Aoki J, Hiramatsu T, Ishida M, Bandoh K, Nagai Y, et al. A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid. J Biol Chem. 2002;277:34254–34263
  5. Yanagida K, Masago K, Nakanishi H, Kihara Y, Hamano F, Tajima Y, et al. Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6. J Biol Chem. 2009;284:17731–17741
  6. Pasternack SM, von Kügelgen I, Müller M, Oji V, Traupe H, Sprecher E, et al. In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. J Invest Dermatol; in press.
  7. Ali G, Chishti MS, Raza SI, John P, Ahmad W. A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. Hum Genet. 2007;121:319–325
  8. Naz G, Khan B, Ali G, Azeem Z, Wali A, Ansar M, et al. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). J Dermatol Sci. 2009;54:12–16
  9. Petukhova L, Shimomura Y, Wajid M, Gorroochurn P, Hodge SE, Christiano AM. The effect of inbreeding on the distribution of compound heterozygotes: a lesson from lipase H mutations in autosomal recessive woolly hair/hypotrichosis. Hum Hered. 2009;68:117–130
  10. Shimomura Y, Wajid M, Zlotogorski A, Lee YJ, Rice RH, Christiano AM. Founder mutations in the lipase H gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009;129:1927–1934

PII: S0923-1811(09)00260-6

doi: 10.1016/j.jdermsci.2009.08.005

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