Genetics of Human Hereditary Hair Loss Disorder

Authors

  • Durnaz Ghani institute of biochemistry university of balochistan
  • Muhammad Ayub Kakar Institute of biochemistry, university of Balochistan Quetta
  • Kalsoom Institute of biochemistry, University of Balochistan Quetta

DOI:

https://doi.org/10.31580/pjmls.v4iSpecial%20Is.2481

Keywords:

autosomal recessive, autosomal dominant, hereditary hypotrichosis, hair follicle, woolly hair

Abstract

Human Hereditary hair loss is a series of clinically and genetically diverse disorder characterized with the sparse hair on scalp, eyebrows/eyelashes and body hair, and later on gradually complete hair loss. Hereditary hair loss is divided into non-syndromic and syndromic types and mode of inheritance can be by the pattern of autosomal recessive and autosomal dominant. Significant advances in molecular genetics have led to identifying many causative genes for genetic hair disorders, The OMIM nomenclature was used to identify various types of hair loss illnesses. We have apprised isolated hereditary hair loss syndromes exhibiting with hypotrichosis and/or Woolly Hairs in this study.

References

Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou AH, Barres BA. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature. 2010;464(7291):1043-7.

Ahmad W, Nomura K, McGrath JA, Hashimoto I, Christiano AM. A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. The Journal of investigative dermatology. 1999;113(2):281-3.

Basit S, Khan S, Ahmad W. 2015. Genetics of human isolated hereditary hair loss disorders. An international journal of Genetics, Molecular and Personalized Medicine 88, 203- 212.

Fujimoto A, Farooq M, Fujikawa H, Inoue A, Ohyama M, Ehama R, Nakanishi J, Hagihara M, Iwabuchi T, Aoki J, Ito M. A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. Journal of Investigative Dermatology. 2012;132(10):2342-9.

Wali A, Chishti MS, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W. Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14. 11–q21. 32. Clinical genetics. 2007;72(1):23-9.

Rafique MA, Ansar M, Jamal SM, Malik S, Sohail M, Faiyaz-Ul-Haque M, Haque S, Leal SM, Ahmad W. A locus for hereditary hypotrichosis localized to human chromosome 18q21. 1. European journal of human genetics. 2003;11(8):623-8.

Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl III JK, Christiano AM. Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation. 2006;74(2-3):129-40.

Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. Journal of investigative dermatology. 2006;126(6):1286-91.

Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. Journal of investigative dermatology. 2006;126(6):1292-6.

Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM. A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. Journal of investigative dermatology. 2005;125(5):1077-9.

Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM. Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. The Journal of Investigative Dermatology. 2007;127(7):1779-82.

Jelani M, Wasif N, Ali G, Chishti MS, Ahmad W. A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). Clinical genetics. 2008;74(2):184-8.

Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Nöthen MM, König A, Khamaysi Z, Betz RC, Sprecher E. A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. Archives of dermatological research. 2009;301(5):391-3.

Sonoda H, Aoki J, Hiramatsu T, Ishida M, Bandoh K, Nagai Y, Taguchi R, Inoue K, Arai H. A Novel Phosphatidic Acid-selective Phospholipase A1That Produces Lysophosphatidic Acid. Journal of Biological Chemistry. 2002;277(37):34254-63.

Jin W, Broedl UC, Monajemi H, Glick JM, Rader DJ. Lipase H, a new member of the triglyceride lipase family synthesized by the intestine. Genomics. 2002;80(3):268-73.

Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM. Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair. Nature genetics. 2008;40(3):335-9.

Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogv EI. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science. 2006;314(5801):982-5.

Ali G, Chishti MS, Raza SI, John P, Ahmad W. A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. Human genetics. 2007;121(3):319-25.

Horev L, Tosti A, Rosen I, Hershko K, Vincenzi C, Nanova K, Mali A, Potikha T, Zlotogorski A. Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. Journal of the American Academy of Dermatology. 2009;61(5):813-8.

Kamran-ul-Hassan Naqvi S, Azeem Z, Ali G, Ahmad W. A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy. Archives of dermatological research. 2010;302(9):701-3.

Pasternack SM, von Kügelgen I, Müller M, Oji V, Traupe H, Sprecher E, Nöthen MM, Janecke AR, Betz RC. In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. Journal of investigative dermatology. 2009;129(12):2772-6.

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. Journal of investigative dermatology. 2009;129(8):1927-34.

Kalsoom UE, Habib R, Khan B, Ali G, Ali N, Ansar M, Ahmad W. Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families. Acta dermato-venereologica. 2010;90(1):93. Kalsoom UE, Habib R, Khan B, Ali G, Ali N, Ansar M, Ahmad W. Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families. Acta dermato-venereologica. 2010;90(1):93.

Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R, Ito K, Nakamura H, Ujiie H. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA‐PLA1α in autosomal recessive hypotrichosis. Human mutation. 2010;31(5):602-10.

Naz G, Khan B, Ali G, Azeem Z, Wali A, Ansar M, Ahmad W. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). Journal of dermatological science. 2009;54(1):12-6.

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. Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Human genetics. 2008;123(5):515-9.

Petukhova L, Sousa Jr EC, Martinez-Mir A, Vitebsky A, Dos Santos LG, Shapiro L, Haynes C, Gordon D, Shimomura Y, Christiano AM. Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. Genomics. 2008;92(5):273-8.

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. Human heredity. 2009;68(2):117-30.

Pasternack SM, Murugusundram S, Eigelshoven S, Müller M, Kruse R, Lehmann P, Betz RC. Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. Archives of dermatological research. 2009;301(8):621-4.

Herzog H, Darby K, Hort YJ, Shine J. Intron 17 of the human retinoblastoma susceptibility gene encodes an actively transcribed G protein-coupled receptor gene. Genome research. 1996;6(9):858-61.

Horev L, Saad‐Edin B, Ingber A, Zlotogorski A. A novel deletion mutation in P2RY5/LPA6 gene cause autosomal recessive woolly hair with hypotrichosis. Journal of the European Academy of Dermatology and Venereology. 2010;24(7):858-9.

Kurban M, Ghosn S, Abbas O, Shimomura Y, Christiano A. A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient. Journal of dermatological science. 2010;57(2):132-4.

Cichon S, Anker M, Vogt IR, Rohleder H, Pützstück M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M. Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Human molecular genetics. 1998;7(11):1671-9.

Nöthen MM, Cichon S, Vogt IR, Hemmer S, Kruse R, Knapp M, Höller T, ul Haque MF, Haque S, Propping P, Ahmad M. A gene for universal congenital alopecia maps to chromosome 8p21-22. The American Journal of Human Genetics. 1998;62(2):386-90.

Ashoor GG, Greenstein RM, Lam H, Martinez-Mir A, Zlotogorski A, Christiano AM. Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions. Journal of dermatological science. 2005;40(1):29-33.

Henn W, Zlotogorski A, Lam H, Martinez-Mir A, Zaun H, Christiano AM. Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis. Journal of the American Academy of Dermatology. 2002;47(4):519-23.

Paller AS, Varigos G, Metzker A, Bauer RC, Opie J, Martínez Mir A, Christiano AM, Zlotogorski A. Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. J Invest Dermatol. 2003;121(2):430-2.

Paradisi M, Chuang GS, Angelo C, Pedicelli C, Martinez‐Mir A, Christiano AM. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene. Clinical and Experimental Dermatology: Experimental dermatology. 2003;28(5):535-8.

Paradisi M, Massé M, Martinez-Mir A, Lam H, Pedicelli C, Christiano AM. Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions. European Journal of Dermatology. 2005;15(5):332-8.

Michailidis E, Theos A, Zlotogorski A, Martinez Mir A, Christiano AM. Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene. Pediatric Dermatology. 2007;24(5):E79-82.

Beaudoin III GM, Sisk JM, Coulombe PA, Thompson CC. Hairless triggers reactivation of hair growth by promoting Wnt signaling. Proceedings of the National Academy of Sciences. 2005;102(41):14653-8.

Thompson CC. Hairless is a nuclear receptor corepressor essential for skin function. Nuclear receptor signaling. 2009;7(1):nrs-07010.

Kraemer L, Wajid M, Shimomura Y, Christiano AM. Mutations in the hairless gene underlie APL in three families of Pakistani origin. Journal of dermatological science. 2008;50(1):25-30.

Potter CW. A history of influenza. Journal of applied microbiology. 2001;91(4):572-9.

Yip L, Horev L, Sinclair R, Zlotogorski A. Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria. Acta dermato-venereologica. 2008;88(4):346-9.

Balighi K, Lajevardi V, Moeineddin F, Jelani M, Tamizifar B, Nikoo A, Javed Q, Ahmad W, Parvaneh N. A novel deletion mutation in the human hairless (HR) gene in an Iranian family with atrichia and papular lesions. Clinical and Experimental Dermatology. 2009;34(7):e498-500.

Ahmad W, Nomura K, McGrath JA, Hashimoto I, Christiano AM. A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. The Journal of investigative dermatology. 1999;113(2):281-3.

Ahmad W, Panteleyev AA, Christiano AM. The molecular basis of congenital atrichia in humans and mice: mutations in the hairless gene. InJ Investig Dermatol Symp Proc. 1999;4(3):240-243.

Ayub M, Basit S, Jelani M, Rehman FU, Iqbal M, Yasinzai M, Ahmad W. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. The American Journal of Human Genetics. 2009;85(4):515-20.

Onoufriadis A, Costas MJ, Castelo-Soccio LE, Irvine A, Mcgrath J, Onoufriadis A, Cabezas A, Ng JC, Canales J, Costas MJ, Ribeiro JM. Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities. Clinical and Experimental Dermatology. 2020; 45( 5):654-657.

Boggon TJ, Murray J, Chappuis-Flament S, Wong E, Gumbiner BM, Shapiro L. C-cadherin ectodomain structure and implications for cell adhesion mechanisms. Science. 2002;296(5571):1308-13.

Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, Cohen N. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nature genetics. 2001;29(2):134-6.

Indelman M, Eason J, Hummel M, Loza O, Suri M, Leys MJ, Bayne M, Schwartz FL, Sprecher E. Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy. Clinical and Experimental Dermatology: Experimental dermatology. 2007;32(2):191-6.

Shimomura Y, Wajid M, Petukhova L, Kurban M, Christiano AM. Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. The American Journal of Human Genetics. 2010;86(4):632-8.

John P, Ali G, Chishti MS, Naqvi SM, Leal SM, Ahmad W. Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26. 33–q27. 3. Human genetics. 2006;118(5):665-7.

Xu C, Zhang L, Chen N, Su B, Pan CM, Li JY, Zhang GW, Liu Z, Sheng Y, Song HD. A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12. 12∼ 12.3 in a Chinese family. Journal of cutaneous pathology. 2010;37(7):758-63.

Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nature genetics. 2003;34(2):151-3.

Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nature genetics. 2009;41(2):228-33.

Düzenli S, Redler S, Müller M, Polat M, Dogruer D, Pasternack SM, Betz RC. Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis. Clinical and Experimental Dermatology: Experimental dermatology. 2009;34(8):e953-6.

Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, Van Steensel M, Sweeney E, Just M, Grimm C. Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. The American Journal of Human Genetics. 2013;92(1):81-7.

Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J. Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. Human Mutation. 2011;32(7):710-4.

Cai LQ, Wang PG, Gao M, Lu WS, Xu SX, Fang QY, Zhou WM, Lin D, Du WH, Zhang SM, Yang S. A novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna Hereditary Hypotrichosis. Journal of dermatological science. 2009;55(2):125-7.

Ramot Y, Horev L, Smolovich I, Molho-Pessach V, Zlotogorski A. Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript. Experimental Dermatology. 2010;19(8):e320-2.

Downloads

Published

2022-06-16