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A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families

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Abstract

Autosomal recessive hypotrichosis simplex (ARHS) manifests with paucity of hair appearing during early childhood. We assessed four affected families. We initially genotyped three of these families for a panel of microsatellite markers spanning all ARHS-associated loci and obtained data suggesting linkage to 3q27, encompassing LIPH, which had previously been shown to be associated with ARHS. Accordingly, a homozygous duplication mutation in exon 2 of this gene (c.280_369dup; p.Gly94_Lys123dup) was found to segregate with the disease in all the families. Through the identification of the first duplication mutation in the human LIPH gene, we provide further evidence supporting a role for the phospholipase signalling pathway in hair growth and differentiation.

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References

  1. Ali G, Chishti MS, Raza SI, John P, Ahmad W (2007) A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. Hum Genet 3–4:319–325

    Article  CAS  Google Scholar 

  2. Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A, Ali G, Chishti MS, Ahmad W (2008) Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet 5:515–519

    Article  CAS  Google Scholar 

  3. Jelani M, Wasif N, Ali G, Chishti MS, Ahmad W (2008) A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). Clin Genet 74(2):184–188

    Article  PubMed  CAS  Google Scholar 

  4. Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI (2006) Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science 5801:982–985

    Article  CAS  Google Scholar 

  5. Pasternack SM, von Kugelgen I, Aboud KA, Lee YA, Ruschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nurnberg P, Nothen MM, Betz RC (2008) G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet 3:329–334

    Article  CAS  Google Scholar 

  6. Poyanmehr S, Freyschmidt-Paul P, Happle R, Hoffmann R (2001) Guess what! Hypotrichosis simplex. Eur J Dermatol 4:383–384

    Google Scholar 

  7. Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM (2008) Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet 3:335–339

    Article  CAS  Google Scholar 

  8. Sprecher E (2005) Genetic hair and nail disorders. Clin Dermatol 1:47–55

    Article  Google Scholar 

  9. Takahashi T, Kamimura A, Hamazono-Matsuoka T, Honda S (2003) Phosphatidic acid has a potential to promote hair growth in vitro and in vivo, and activates mitogen-activated protein kinase/extracellular signal-regulated kinase kinase in hair epithelial cells. J Invest Dermatol 3:448–456

    Article  Google Scholar 

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Acknowledgments

The authors thank the patients and their families for the participation in the study. Markus M. Nöthen is recipient of a grant of the Alfried Krupp von Bohlen und Halbach-Stiftung. Regina C. Betz is a recipient of an Emmy Noether grant from the German research foundation (DFG).

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Correspondence to Eli Sprecher.

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S. Nahum and S. Pasternack are equal contributors.

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Nahum, S., Pasternack, S.M., Pforr, J. et al. A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. Arch Dermatol Res 301, 391–393 (2009). https://doi.org/10.1007/s00403-008-0903-9

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  • DOI: https://doi.org/10.1007/s00403-008-0903-9

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