Nectinopathies: An emerging group of ectodermal dysplasia syndromes

Giornale Italiano di Dermatologia e Venereologia

Volumn 148, Issue 1, 2013, Pages 59-64

  Brancati, F ^a,b   Agolini, E ^c   Fortugno, P ^d  

^a UNIVERSITY OF CHIETI   (Italy)

^b TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Cleft lip; Cleft palate; Ectodermal dysplasia

Indexed keywords

GLYCOPROTEIN; NECTIN 1; NECTIN 4; PLAKOPHILIN; PLAKOPHILIN 1; UNCLASSIFIED DRUG;

CELL ADHESION; CLEFT LIP PALATE; CLINICAL FEATURE; ECTODERMAL DYSPLASIA; GENE MUTATION; HUMAN; MOLECULAR PATHOLOGY; NECTINOPATHY; PHENOTYPE; PROTEIN FUNCTION; REVIEW; SKIN FRAGILITY; SYNDACTYLY;

EID: 84876575614     PISSN: 03920488     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (36)

1. Freire-Maia N, Pinheiro M. Ectodermal Dysplasias: a Clinical and Genetic Study. New York, NY: Alan R. Liss; 1984.
2. Visinoni ÁF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. Am J Med Genet Part A 2009;149A: 1980-2002.
3. Itin PH, Fistarol SK. Ectodermal dysplasias. Am J Med Genet C Semin Med Genet 2004;131C:45-51. (Pubitemid 39441633)
4. Irvine A. Ectodermal dysplasias. In: Harper J, Oranje O, Prose N, eds. Pediatric dermatology. 2nd ed. Oxford: Blackwell Scientific; 2005. p. 1412-66.
5. Lamartine J. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 2003;28:351-5. (Pubitemid 36801833)
6. Perez-Moreno M, Jamora C, Fuchs E. Sticky business: orchestrating cellular signals at adherens junctions. Cell 2003;112:535-48. (Pubitemid 36263085)
7. Gumbiner BM. Regulation of cadherin-mediated adhesion in morphogenesis. Nat Rev Mol Cell Biol 2005;8:622-34. (Pubitemid 41081266)
8. Takeichi M. Cadherin cell adhesion receptors as a morphogenetic regulator. Science 1991;251:1451-5. (Pubitemid 121000430)
9. Jamora C, DasGupta R, Kocieniewski P, Fuchs E. Links between signal transduction, transcription and adhesion in epithelial bud development. Nature 2003;422:317-22. (Pubitemid 36378359)
10. Takai Y, Irie K, Shimizu K, Sakisaka T, Ikeda W. Nectins and nectin-like molecules: roles in cell adhesion, migration, and polarization. Cancer Sci 2003;94:655-67. (Pubitemid 37160921)
11. Takahashi K, Nakanishi H, Miyahara M, Mandai K, Satoh K, Satoh A et al. 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;145:539-49. (Pubitemid 29215718)
12. Lopez M, Eberlé F, Mattei MG, Gaben J, Birg F, Bardin F et al. Complementary DNA characterization and chromosomal localization of a human gene related to the poliovirus receptor-encoding gene. Gene 1995;155:261-5.
13. Geraghty RJ, Krommenacher C, Cohen GH, Eisenberg RJ, Spear PG. Entry of alphaherpesviruses mediated by poliovirus receptor-related protein 1 and poliovirus receptor. Science 1998;280:1618-20. (Pubitemid 28277708)
14. Takai Y, Ikeda W, Ogita H, Rikitake Y. The immunoglobulin-like cell adhesion molecule nectin and its associated protein afadin. Annu Rev Cell Dev Biol 2008;24:309-42.
15. Reymond N, Fabre S, Lecocq E, Adelaide J, Dubreuil P, Lopez M. Nectin4/PRR4, a new afadin-associated member of the nectin family that trans-interacts with nectin1/PRR1 through V domain interaction. J Biol Chem 2001;276:43205-15.
16. Momose Y, Honda T, Inagaki M, Shimizu K, Irie K, Nakanishi H et al. Role of the second immunoglobulin-like loop of nectin in cell-cell adhesion. Biochem Biophys Res Commun 2002;293:45-9. (Pubitemid 34694168)
17. Yasumi M, Shimizu K, Honda T, Takeuchi M, Takai Y. Role of each immunoglobulin-like loop of nectin for its cell-cell adhesion activity. Biochem Biophys Res Commun 2003;302:61-6. (Pubitemid 36268919)
18. Matsushima H, Utani A, Endo H, Matsuura H, Kakuta M, Nakamura Y et al. The expression of nectin-1alpha in normal human skin and various skin tumours. BrJ Dermatol 2003;148:755-62. (Pubitemid 36629756)
19. Barron MJ, Brookes SJ, Draper CE, Garrod D, Kirkham J, Shore RC et al. The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice. Hum Mol Genet 2008;17:3509-20.
20. Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, BoudgheneStambouli O et al. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet 2010;87:265-73.
21. Fabre-Lafay S, Monville F, Garrido-Urbani S, Berruyer-Pouyet C, Ginestier C, Reymond N et al. Nectin-4 is a new histological and serological tumor associated marker for breast cancer. BMC Cancer 2007;7:73. (Pubitemid 46785011)
22. Takano A, Ishikawa N, Nishino R, Masuda K, Yasui W, Inai K et al. Identification of nectin-4 oncoprotein as a diagnostic and therapeutic target for lung cancer. Cancer Res 2009;69:6694-703.
23. Derycke MS, Pambuccian SE, Gilks CB, Kalloger SE, Ghidouche A, Lopez M et al. Nectin 4 overexpression in ovarian cancer tissues and serum: potential role as a serum biomarker. Am J Clin Pathol 2010;134:835-45.
24. Mühlebach MD, Mateo M, Sinn PL, Prüfer S. Uhlig KM. Leonard VH et al. Adherens junction protein nectin-4 is the epithelial receptor for measles virus. Nature 2011;480:530-3.
25. 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;24:291-3. (Pubitemid 17091419)
26. Suzuki K, Bustos T, Spritz RA. Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. Am J Hum Genet 1998;63:1102-7.
27. Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet 2000;25:427-30. (Pubitemid 32983436)
28. Boudghene-Stambouli O, Merad-Boudia A. Association of ectodermal dysplasia and syndactylia. Ann Dermatol Venereol 1991;118:107-10.
29. Jelani M, Chishti MS. Ahmad W. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1). J Hum Genet 2011;56:352-7.
30. Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D et al. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nat Genet 2001;29:134-6. (Pubitemid 32952646)
31. Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D et al. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. J Invest Dermatol 2002;119:1210-3. (Pubitemid 35430503)
32. Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S et al. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet 2005;42:292-8. (Pubitemid 40523950)
33. McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997;17:240-4.
34. McMillan JR, Haftek M, Akiyama M, South AP, Perrot H, McGrath JA et al. 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. (Pubitemid 36900460)
35. Koster MI. p63 in skin development and ectodermal dysplasias. J Invest Dermatol 2010;130:2352-8.
36. van Bokhoven H, Brunner HG. Splitting p63. Am J Hum Genet 2002;71:1-13. (Pubitemid 34734702)