Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Human Mutation

Volumn 32, Issue 1, 2011, Pages 70-72

  Cluzeau, Céline ^a   Hadj Rabia, Smail ^a,b   Jambou, Marguerite ^b   Mansour, Sourour ^a   Guigue, Philippe ^a   Masmoudi, Sahben ^b   Bal, Elodie ^a   Chassaing, Nicolas ^c   Vincent, Marie Claire ^d   Viot, Géraldine ^e   Clauss, François ^f,g   Manière, Marie Cécile ^f   Toupenay, Steve ^h   Le Merrer, Martine ^a   Lyonnet, Stanislas ^a   Cormier Daire, Valérie ^a   Amiel, Jeanne ^a   Faivre, Laurence ⁱ   De Prost, Yves ^a,b   Munnich, Arnold ^a   Bonnefont, Jean Paul ^a,b   Bodemer, Christine ^a,b   Smahi, Asma ^a   more..

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c CHU PURPAN   (France)

^d HÔPITAL CIVIL   (France)

^e Hôpitaux universitaires ^*  (France)

^f UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^g UNIVERSITÉ DE STRASBOURG   (France)

^h HÔTEL DIEU   (France)

ⁱ DIJON UNIVERSITY HOSPITAL   (France)

Author keywords

EDA1; EDAR; EDARADD; WNT10A

Indexed keywords

ECTODYSPLASIN A; EDAR ASSOCIATED DEATH DOMAIN PROTEIN; EDAR RECEPTOR; WNT10A PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 14Q; CLINICAL FEATURE; FACE DYSMORPHIA; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 78650427945     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21384     Document Type: Article

References (29)

1. Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A. 2007. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet 81:821-828.
2. Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A. 2007. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum Mutat 28:703-709.
3. Bayes M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J. 1998. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet 7:1661-1669.
4. Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Ropke A. 2009. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet 85:97-105.
5. Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC. 2006. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat 27:255-259.
6. Dhanrajani PJ, Jiffry AO. 1998. Management of ectodermal dysplasia: a literature review. Dent Update 25:73-75.
7. Freire-Maia N. 1977. Ectodermal dysplasias revisited. Acta Genet Med Gemellol (Roma) 26:121-131.
8. Gat U, DasGupta R, Degenstein L, Fuchs E. 1998. De Novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin. Cell 95:605-614.
9. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA. 2001. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 414:913-916.
10. 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. 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13:409-416.
11. Koppinen P, Pispa J, Laurikkala J, Thesleff I, Mikkola ML. 2001. Signaling and subcellular localization of the TNF receptor Edar. Exp Cell Res 269:180-192.
12. Kumar A, Eby MT, Sinha S, Jasmin A, Chaudhary PM. 2001. The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A. J Biol Chem 276:2668-2677.
13. Lamartine J. 2003. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 28:351-355.
14. Laurikkala J, Pispa J, Jung HS, Nieminen P, Mikkola M, Wang X, Saarialho-Kere U, Galceran J, Grosschedl R, Thesleff I. 2002. Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar. Development 129:2541-2553.
15. Mikkola ML, Pispa J, Pekkanen M, Paulin L, Nieminen P, Kere J, Thesleff I. 1999. Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion. Mech Dev 88:133-146.
16. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. 1999. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 22:366-369.
17. Mou C, Jackson B, Schneider P, Overbeek PA, Headon DJ. 2006. Generation of the primary hair follicle pattern. Proc Natl Acad Sci USA 103:9075-9080.
18. Mustonen T, Ilmonen M, Pummila M, Kangas AT, Laurikkala J, Jaatinen R, Pispa J, Gaide O, Schneider P, Thesleff I, Mikkola ML. 2004. Ectodysplasin A1 promotes placodal cell fate during early morphogenesis of ectodermal appendages. Development 131:4907-4919.
19. Nagy N, Wedgeworth E, Hamada T, White JM, Hashimoto T, McGrath JA. 2010. Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A. J Dermatol Sci 58:220-222.
20. Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N. 2009. WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. Eur J Hum Genet 17:1600-1605.
21. Pinheiro M, Freire-Maia N. 1994. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 53:153-162.
22. Priolo M, Silengo M, Lerone M, Ravazzolo R. 2000. Ectodermal dysplasias: not only "skin" deep. Clin Genet 58:415-430.
23. Pummila M, Fliniaux I, Jaatinen R, James MJ, Laurikkala J, Schneider P, Thesleff I, Mikkola ML. 2007. Ectodysplasin has a dual role in ectodermal organogenesis: inhibition of Bmp activity and induction of Shh expression. Development 134:117-125.
24. Schmidt-Ullrich R, Tobin DJ, Lenhard D, Schneider P, Paus R, Scheidereit C. 2006. NF-kappaB transmits Eda A1/EdaR signalling to activate Shh and cyclin D1 expression, and controls post-initiation hair placode down growth. Development 133:1045-1057.
25. van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ. 2008. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. Eur J Hum Genet 16:673-679.
26. van Geel M, Gattas M, Kesler Y, Tong P, Yan H, Tran K, Steijlen PM, Murrell DF, van Steensel MA. 2010. Phenotypic variability associated with WNT10A nonsense mutations. Br J Dermatol [Epub ahead of print].
27. Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P. 2001. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet 9:355-363.
28. Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. 2009. Ectodermal dysplasias: clinical and molecular review. Am J Med Genet A 149A:1980-2002.
29. Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM. 2000. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science 290:523-527.