Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
JCR Impact Factor (IF) – 1.736
5-Year Impact Factor – 2.135
Index Copernicus  – 168.52
MEiN – 70 pts

ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
Periodicity – monthly

Download original text (EN)

Advances in Clinical and Experimental Medicine

2010, vol. 19, nr 2, March-April, p. 257–269

Publication type: review article

Language: English

Molecular Background of Ectodermal Dysplasia

Molekularne podłoże dysplazji ektodermalnej

Janina Szeląg1,, Anna Sadakierska-Chudy2,, Jan Łyczek3,, Anna Paradowska1,

1 Division of Facial Anomalies, Department of Dentofacial Orthopedics and Orthodontics, Wroclaw Medical University, Poland

2 Molecular Techniques Unit, Department of Forensic Medicine, Wroclaw Medical University, Poland

3 Student’s Scientific Association of Facial Anomalies, Wroclaw Medical University, Poland

Abstract

Ectodermal dysplasia is a disease of genetic background in which the main symptoms are anomalies of the teeth, hair, nails, and sweat glands. It occurs in 7/10,000 births and may be divided into 170 different syndromes. The main symptoms are weak thin hair, hypodontia and other dental anomalies, a small number of sweat glands, and malformation and weakening of nails. The most common type of the disease is hypohidrotic ectodermal dysplasia related to chromosome X, which is Christ-Siemens-Touraine syndrome.

Streszczenie

Dysplazja ektodermalna jest chorobą o etiologii genetycznej, której kluczowymi objawami są nieprawidłowości zębów, włosów, paznokci i gruczołów potowych. Do schorzeń typu dysplazji zalicza się ponad 170 jednostek chorobowych wspólnie występujących z częstością 7/10 000 urodzeń. Objawami dysplazji ektodermalnej są osłabione i cienkie włosy, hipodoncja i zniekształcenia zębów, zmniejszenie liczby gruczołów potowych oraz zniekształcenie i osłabienie paznokci. Najczęściej występującym typem schorzenia jest hipohydrotyczna dysplazja ektodermalna sprzężona z chromosomem X, czyli zespół Christ-Siemens-Touraine.

Key words

ectodermal dysplasia, gene, mutation, transcription factors, X-linked disease

Słowa kluczowe

dysplazja ektodermalna, gen, mutacja, czynniki transkrypcyjne, choroba sprzężona z chromosomem X

References (93)

  1. Pinheiro M, Freire-Maia N: Christ-Siemens-Touraine syndrome – a clinical and genetic analysis of a large Brazilian kindred. I. Affected females. II. Affected males. III. Carrier detection. Am J Med Genet 1979, 4, 113–134.
  2. McKusick V: Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore, MD: Johns, Hopkins University Press 1994.
  3. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson, B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996, 13(4), 409–416.
  4. Priolo M, Lagana C: Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet 2001, 38, 579–585.
  5. Lamartine J: Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 2003, 28, 351–355.
  6. Reed WB, Lopez DA, Landing B: Clinical spectrum of anhidrotic ectodermal dysplasia. Arch Dermatol 1970, 102, 2, 134–143.
  7. Stevenson AC, Kerr CB: On the distribution of frequencies of mutation to genes determining harmful traits in man. Mutat Res 1967, 4, 3, 339–352.
  8. Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J: Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J Biol Chem 2001, 276, 22, 18819–18827.
  9. Schmidt-Ullrich R, Aebischer T, Hülsken J, Birchmeier W, Klemm U, Scheidereit C: Requirement of NF-kappaB/Rel for the development of hair follicles and other epidermal appendices. Development 2001, 128, 19, 3843–3853.
  10. Hayden MS, Ghosh S: Signaling to NF-kappaB. Genes Development 2004, 18, 2195–2224.
  11. Karin M, Ben-Neriah Y: Phosphorylation meets ubiquitination: the control of NF-[kappa]B activity. Annu Rev Immunol 2000, 18, 621–663.
  12. Hymowitz D, Compaan M, Yan H, Wallweber V, Dixit M, Starovasnik A, de Vos: The Crystal Structures of EDA-A1 and EDA-A2 Splice Variants with Distinct Receptor Specificity. Structur 2003, 11, 12, 1513–1520 S.
  13. Zhang XJ, Chen JJ, Song YX, Yang S, Xiong XY, Zhang AP, He PP, Gao M, Li YB, Lin D, Huang W: Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia. Arch Dermatol Res 2003, 295, 38–42.
  14. Lind K, Stecksén-Blicks Ch, Lejon K, Schmitt-Egenolf M: EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families. BMC Med Genet 2006, 7, 80–??
  15. Zonana J, Clarke A, Sarfarazi M, Thomas NST, Roberts K, Marymee K, Harper PS: X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Am J Hum Genet 1998, 43, 75–85.
  16. Pinheiro M, Freire-Maia N: Christ-Siemens-Touraine syndrome – a clinical and genetic analysis of a large Brazilian kindred. I. Affected females. II. Affected males. III. Carrier detection. Am J Med Genet 1979, 4, 113–134.
  17. Nakata M, Koshiba H, Eto K, Nance WE: A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. Am J Hum Genet 1980, 32, 908–919.
  18. Clark RP, Goff MR, MacDermot KD: Identification of functioning sweat pores and visualization of skin temperature patterns in X-linked hypohidrotic ectodermal dysplasia by whole body thermography. Hum Genet 1990, 86, 7–13.
  19. Zankl A, Addor MC, Cousin P, Gaide AC, Gudinchet F, Schorderet DF: Fatal outcome in a female monozygotic twin with X-linked hypohydrotic (sic) ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene. Eur J Pediat 2001, 160, 296–299.
  20. Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J: Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J Biol Chem 2001, 276, 22, 188, 19–27.
  21. Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM, Jorgenson R, Zonana J: Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am J Hum Genet 1997, 61, 94–100.
  22. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J: Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999, 22, 4, 366–369.
  23. Headon DJ, Overbeek PA: Involvement of a novel Tnf receptor homologue in hair follicle induction. Nat Genet 1999, 22, 4, 370–374.
  24. Shimomura Y, Sato N, Miyashita A, Hashimoto T, Ito M, Kuwano R: A R are Case of Hypohidrotic Ectodermal Dysplasia Caused by Compound Heterozygous Mutations in the EDAR Gene. Nat Genet 1999, 22, 4, 370–374.
  25. Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL: X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 2001, 27, 3, 277–285.
  26. Van der Hout A, Oudesluijs G, Venema A, Verheij JBGM, Mol BGJ, Rump P, Brunner HG, Vos Y, van Essen AJ: Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. Eur J Hum Genet 2008, 16, 673–679.
  27. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA: Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 2001, 41, 913–916.
  28. Jorgenson RJ, Dowben JS, Dowben SL: Autosomal dominant ectodermal dysplasia. J Craniofac Genet Dev Biol 1987, 7, 403–412.
  29. Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC: Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat 2006, 27, 3, 255–259.
  30. Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A: Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum Mutat 2007, 28, 703–709.
  31. Hofmann K: The modular nature of apoptotic signaling proteins. Cell Molec Life Sci 1999, 55, 1113–1128.
  32. Ashkenazi A, Dixit VM: Death receptors: signaling and modulation. Science 1998, 281, 1305–1308.
  33. Locksley RM, Killeen N, Lenardo MJ: The TNF and TNF receptor superfamilies: Integrating mammalian biology. Cell 2001, 104, 487–501.
  34. Hollister DW, Klein SH, Dejager HJ, Lachman RS, Rimoin DL: The lacrimo-auriculo-dento-digital syndrome. J Pediat 1973, 83, 438–444.
  35. Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y: Mutations in different components of FGF signaling in LADD syndrome. Nat Genet 2006, 38, 414–417.
  36. Hogan BL: Morphogenesis. Review article highlighting the roles of multigene families, such as Fgfs, Bmps, Hedgehogs, Wnts and Egfs in morphogenesis. Cell 1999, 96, 225–233.
  37. Johnson DE, Lee PL, Lu J, Williams LT: Diverse forms of a receptor for acidic and basic fibroblast growth factors. Mol Cell Biol 1990, 10, 4728–4736.
  38. Jin DY, Jeang KT: Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28. J Biomed Sci 1999, 6, 115–120.
  39. Vinolo E, Sebban H, Chaffotte A, Israel A, Courtois G, Ve´ron M, Agou F: A Point Mutation in NEMO Associated with Anhidrotic Ectodermal Dysplasia with Immunodeficiency Pathologyn Results in Destabilization of the Oligomer and Reduces Lipopolysaccharideand Tumor Necrosis Factor-mediated NF-B Activation. J Biol Chem 2006, 281, 6334–6348.
  40. May MJ, D’Acquisto F, Madge LA, Glöckner J, Pober JS, Ghosh S: Selective Inhibition of NF-kappa B Activation by a Peptide that Blocks the Interaction of NEMO with the Ikappa B Kinase Complex. Science 2000, 289, 1550– 1554.
  41. Rothwarf DM, Zandi E, Natoli G, Karin M: IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex. Nature 1998, 395 (6699), 297–300.
  42. Huang GJ, Zhang ZQ, Jin DY: Stimulation of IKK-γ oligomerization by the T-cell leukemia virus oncoprotein Tax. FEBS Letters 2002, 531, 494–498.
  43. Agou F, Ye F, Goffinont S, Courtois G, Yamaoka S, Israel A, Veron M: NEMO Trimerizes through Its Coiledcoil C-terminal Domain. J Biol Chem 2002, 277, 17464–17475.
  44. Tang ED, Wang CY, Xiong Y, Guan KL: A role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factoralpha. J Biol Chem 2003, 278, 37297–37305.
  45. Zhou H, Wertz I, O’Rourke K, Ultsch M, Seshagiri S, Eby M, Xiao W, Dixit VM: Bcl10 activates the NF-kappaB pathway through ubiquitination of NEMO. Nature 2004, 427, 167–171.
  46. Trompouki E, Hatzivassiliou E, Tsichritzis T, Farmer H, Ashworth A, Mosialos G: CYLD is a deubiquitinating enzyme that negatively regulates NF-kB activation by TNFR family members. Nature 2003, 424, 793–796.
  47. Smahi A, Courtois G, Rabia SH, Döffinger R, Bodemer C, Munnich A, Casanova JL, Israël A: The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet 2002, 11, 2371–2375.
  48. Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM: A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 2000, 67, 1555–1562.
  49. Kellermayer R, Keller M, Ratajczak P, Richardson E, Harangi F, Mérei E, Melegh B, Kosztolányi G, Richard G: Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. Eur J Dermatol 2005, 15, 2, 75–79.
  50. Kumar NM, Gilula NB: The Gap Junction Communication Channel. Cell 1996, 84, 3, 381–388.
  51. Bruzzone R, White TW, Paul DL: Connections with Connexins: The Molecular Basis of Direct Intercellular Signaling. Eur J Biochem 1996, 238, 1, 1–27.
  52. Mignon C, Fromaget C, Mattei MG, Gros D, Yamasaki H, Mesnil M: Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-q12 and mouse chromosome 14D1-E1 by in situ hybridization. Cytogenet Cell Genet 1996, 72, 185–186.
  53. Kiang DT, Jin N, Tu Z-J, Lin HH: Upstream genomic sequence of the human connexin26 gene. Gene 1997, 199, 165–171.
  54. Maestrini E, Korge BP, Ocańa-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS: A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families. Hum Mol Genet 1999, 8, 1237–1243.
  55. Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ: The Molecular Basis of Direct Intercellular Signaling. Nat Genet 1998, 20, 4, 366–369.
  56. Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, Schorderet DF, Hohl D, Huber M: Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet 2000, 67, 1296–1301.
  57. Lamartine J, Essenfelder GM, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G: Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 2000, 26, 142–144.
  58. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW: Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia. Am J Hum Genet 2003, 72, 2, 408–418.
  59. Lopez M, Eberle F, Mattei MG, Gabert J, Birg F, Bardin F, Maroc C, Dubreuil P: Complementary DNA characterization and chromosomal localization of a human gene related to the poliovirus receptor-encoding gene. Gene 1995, 155, 261–265.
  60. Takahashi K, Nakanishi H, Miyahara M, Mandai K, Satoh K, Satoh A, Nishioka H, Aoki J, Nomoto A, Mizoguchi A, Takai Y: Nectin/PRR: an immunoglobulin-like cell adhesion molecule recruited to cadherin-based adherens junctions through interaction with Afadin, a PDZ domain-containing protein. J Cell Biol 1999, 139, 517–549.
  61. Cocchi F, Lopezt M, Menotti L, Aoubalat M, Dubreuilt P, Campadelli-Fiume G: The V domain of herpesvirus Ig-like receptor (HIgR) contains a major functional region in herpes simplex virus-1 entry into cells and interacts physically with the viral glycoprotein D. Proc Natl Acad Sci USA, 1998, 95, 15700–15705.
  62. Mandai K, Nakanishi H, Satoh A, Obaishi H, Wada M, Nishioka H, Itoh M, Mizoguchi A, Aoki T, Fujimoto T, Matsuda Y, Tsukita S, Takai Y: Afadin: a novel actin filament-binding protein with one PDZ domain localized at cadherin-based cell-to-cell adherens junction. J Cell Biol 1997, 139, 517–528.
  63. Mandai K, Nakanishi H, Satoh A, Takahashi K, Satoh K, Nishioka H, Mizoguchi A, Takai Y: Ponsin/SH3P12: an l-afadinand vinculin-binding protein localized at cell-cell and cell-matrix adherens junctions. J Cell Biol 1999, 144, 1001–1017.
  64. Geraghty RJ, Krummenacher C, Cohen GH, Eisenberg RJ, Spear PG: Entry of alphaherpesviruses mediated by poliovirus receptor-related protein 1 and poliovirus receptor. Science 1998, 280, 1618–1620.
  65. Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spitz RA: Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate ectodermal dysplasia. Nat Genet 2000, 25, 8, 427–430.
  66. Zlotogora J, Zilberman Y, Tenenbaum A, Wexler MR: Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes and mental retardation. A new syndrome? J Med Genet 1987, 24, 291–293.
  67. Zlotogora J: Syndactyly, ectodermal dysplasia, and cleft lip/palate. J Med Genet 1994, 31, 957–959.
  68. Ogur G, Yüksel M: Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. J Med Genet 1998, 25, 37–40.
  69. Zlotogora J, Ogur G: Syndactyly, ectodermal dysplasia, and cleft lip and palate. J Med Genet 1988, 25, 503.
  70. McGrath JA, Hoeger PH, Christiano AM, McMillan JR, Mellerio JE, Ashton GHS, Dopping-Hepenstal PJC, Lake BD, Leigh IM, Harper JI, Eadyr AJ: Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol 1999, 140, 297–307.
  71. McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RAJ: Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997, 17, 240–244.
  72. Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady RAJ, McGrath JA: Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol 2000, 115, 368–374.
  73. Hamada T, South AP, Mitsuhashi Y, Kinebuchi T, Bleck O, Ashton GHS, Hozumi Y, Suzuki T, Hashimoto T, Eady RAJ, McGrath JA: Genotype-phenotype correlation in skin fragility – ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol 2002, 11, 107–114.
  74. Bonne S, van Hengel J, van Roy F: Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/ plakophilin subfamily. Genomics 1998, 51, 452–454.
  75. Schmidt A, Langbein L, Rode M, Prätzel S, Zimbelmann R, Franke WW: Plakophilins 1a and 1b: Widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. Cell Tissue Res 1997, 290, 481–499.
  76. Bornslaeger EA, Godsel LM, Corcoran CM, Park JK, Hatzfeld M, Kowalczyk AP, Green KJ: Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders. J Cell Sci 2001, 114, 727–738.
  77. Hatzfeld M, Haffner C, Schulze K, Vinzens U: The function of plakophilin 1 in desmosome assembly and actin filament organisation. J Cell Biol 2000, 149, 209-222.
  78. McMillan JR, Haftek M, Akiyama M, South AP, Perrot H, McGrath JA, Eady RAD, Shimizu H: Alterations in Desmosome Size and Number Coincide with the Loss of Keratinocyte Cohesion in Skin with Homozygous and Heterozygous Defects in the Desmosomal Protein Plakophilin 1. J Invest Dermatol 2003, 121, 96–103.
  79. Sprecher E, Molho-Pessach V, Ingber A, Sagi E, Indelman M, Bergman R: Homozygous Splice Site Mutations in PKP1 Result in Loss of Epidermal Plakophilin 1 Expression and Underlie Ectodermal Dysplasia/Skin Fragility Syndrome in Two Consanguineous Families. J Invest Dermatol 2004, 122, 647–651.
  80. Kremmidiotis G, Baker E, Crawford J, Eyre HJ, Nahmias J, Callen DF: Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity. Genomics 1998, 49, 467–471.
  81. Takeichi M: Cadherins: a molecular family important in selective cell-cell adhesion. Annu Rev Biochem 1990, 59, 237–252.
  82. Ivanov DB, Philippova MO, Tkachuk VA: Structure and function of classical cadherins. Biochemistry 2001, 10, 1174–1186.
  83. Troyanovsky SM: Mechanisms of cell-cell adhesion complex assembly. Curr Opin Cell Biol 1999, 11, 561–566.
  84. Tsukita S, Tsukita S, Nagafuchi A, Yonemura S: Molecular linkage between cadherins and actin filaments in cell-cell adherens junctions. Curr Opin Cell Biol 1992, 4, 834–839.
  85. Rimm DL, Koslov ER, Kebriaei P, Cianci CD, Morrow JS: α1(E)-Catenin is an actin-binding and -bundling protein mediating the attachment of F-actin to the membrane adhesion complex. Proc Natl Acad Sci USA 1995, 92, 8813–8817.
  86. Souied E, Amalric P, Chauvet ML, Chevallier C, Le Hoang P, Munnich A, Kaplam J: Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance. Ophthal General 1995, 16, 11–15.
  87. Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, Cohen N, Szargel R: Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3 encoding P-cadherin. Nat Genet 2001, 29, 134–136.
  88. Huelsken J, Vogel R, Erdmann B, Cotsarelis G, Birchmeier W: Beta-catenin controls hair follicle morphogenesis and stem cell differentiation in the skin. Cell 2001, 105, 533–545.
  89. Gat U, DasGupta R, Degenstein L, Fuchs E: De novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin. Cell 1998, 95, 605–614.
  90. Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D, Ciubutaro D, Leibu R, Sprecher E: A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. J Invest Dermatol 2002, 119, 1210–1213.
  91. Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T: Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet 2005, 42, 4, 292–298.
  92. Balarin Silva V, Simőes AM, Marques-de-Faria AP: EEM syndrome: report of a family and results of a ten-year follow-up. Ophthalmic Genet 1999, 20, 2, 95–99.
  93. Yang A, Kaghad M, Wang Y, Gillett E, Fleming M, Dötsch V, Andrews N, Caput D, McDeon F: p63, a p53 Homolog at 3q27–29, Encodes Multiple Products with Transactivating, Death-Inducing, and Dominant-Negative Activities. Mol Cell 1998, 2, 3, 305–316.
© Wroclaw Medical University