WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

American Journal of Human Genetics

Volumn 85, Issue 1, 2009, Pages 97-105

  Bohring, Axel ^a   Stamm, Thomas ^a   Spaich, Christiane ^b   Haase, Claudia ^c   Spree, Kerstin ^a   Hehr, Ute ^d   Hoffmann, Mandy ^a   Ledig, Susanne ^a   Sel, Saadettin ^e   Wieacker, Peter ^a   Röpke, Albrecht ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b OLGAHOSPITAL   (Germany)

^c JENA UNIVERSITY HOSPITAL   (Germany)

^d UNIVERSITY OF REGENSBURG   (Germany)

^e MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; ECTODERMAL DYSPLASIA; EYELID DISEASE; FEMALE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HUMAN; INFANT; MALE; ODONTOONYCHODERMAL DYSPLASIA; OLIGODONTIA; PHENOTYPE; PRIORITY JOURNAL; SCHOPF SCHULZ PASSARGE SYNDROME; SEX DIFFERENCE; SKIN TUMOR; TOOTH MALFORMATION;

EID: 67649880580     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.06.001     Document Type: Article

References (44)

1. Adaimy L., Chouery E., Mégarbané H., Mroueh S., Delague V., Nicolas E., Belguith H., de Mazancourt P., and Mégarbané A. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am. J. Hum. Genet. 81 (2007) 821-828
2. Fadhil M., Ghabra T.A., Deeb M., and Der Kaloustian V.M. Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia. Am. J. Med. Genet. 14 (1983) 335-346
3. Arnold W.P., Merkx M.A.W., and Steijlen P.M. Variant of odontoonychodermal dysplasia?. Am. J. Med. Genet. 59 (1995) 242-244
4. Zirbel G.M., Ruttum M.S., Post A.C., and Esterly N.B. Odonto-onycho-dermal dysplasia. Brit J Derm 133 (1995) 797-800
5. Mégarbané H., Haddad M., Delague V., Renoux J., Boehm N., and Mégarbané A. Further delineation of the odonto-onycho-dermal dysplasia syndrome. Am. J. Med. Genet. 129A (2004) 193-197
6. Fried K. Autosomal recessive hydrotic ectodermal dysplasia. J. Med. Genet. 14 (1977) 137-139
7. Mégarbané A., Noujeim Z., Fabre M., and Der Kaloustian V.M. New form of hidrotic ectodermal dysplasia in a Lebanese family. Am. J. Med. Genet. 75 (1998) 196-199
8. Schöpf E., Schulz H.J., and Passarge E. Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig. Artic. Ser. VII (1971) 219-221
9. Burket J.M., Burket B.J., and Burket D.A. Eyelid cysts, hypodontia, and hypotrichosis. J. Am. Acad. Dermatol. 10 (1984) 922-925
10. Font R.L., Stone M.S., Schanzer M.C., and Lewis R.A. Apocrine hidrocystomas of the lids, hypodontia, palmar-plantar hyperkeratosis, and onychodystrophy: a new variant of ectodermal dysplasia. Arch. Ophthal. 104 (1986) 1811-1813
11. Nordin H., Mansson T., and Svensson A. Familial occurrence of eccrine tumours in a family with ectodermal dysplasia. Acta Derm. Venereol. 68 (1988) 523-530
12. Perret C. Schöpf syndrome. Brit J Derm 120 (1989) 131-132
13. Küster W., and Hammerstein W. Das Schöpf-Syndrom. Hautarzt 43 (1992) 763-766
14. Monk B.E., Pieris S., and Soni V. Schöpf-Schulz-Passarge syndrome. Brit J Derm 127 (1992) 33-35
15. Craigen W.J., Levy M.L., and Lewis R.A. Schöpf-Schulz-Passarge syndrome with an unusual pattern of inheritance. Am. J. Med. Genet. 71 (1997) 186-188
16. Castori M., Ruggieri S., Giannetti L., Annessi G., and Zambruno G. Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations. Acta Derm. Venereol. 88 (2008) 607-612
17. Logan C.Y., and Nusse R. The Wnt signaling pathway in development and disease. Annu. Rev. Cell Dev. Biol. 20 (2004) 781-810
18. Gordon M.D., and Nusse R. Wnt signaling: multiple pathways, multiple receptors, and multiple transcription factors. J. Biol. Chem. 281 (2006) 22429-22433
19. Wang J., and Shackleford G.M. Murine Wnt10a and Wnt10b: cloning and expression in developing limbs, face and skin of embryos and in adults. Oncogene 13 (1996) 1537-1544
20. Reddy S., Andl T., Bagasra A., Lu M.M., Epstein D.J., Morrisey E.E., and Millar S.E. Characterization of Wnt gene expression in developing and postnatal hair follicles and identification of Wnt5a as a target of Sonic hedgehog in hair follicles morphogenesis. Mech. Dev. 107 (2001) 69-82
21. Dassule H.R., and McMahon A.P. Analysis of epithelial-mesenchymal interactions in the initial morphogenesis of the mammalian tooth. Dev. Biol. 202 (1998) 215-227
22. Miletich I., and Sharpe P.T. Normal and abnormal dental development. Hum. Mol. Genet. 12 (2003) Spec No 1:R69-R73
23. Narita T., Sasaoka S., Udagawa K., Ohyama T., Wada N., Nishimatsu S., Takada S., and Nohno T. Wnt10a is involved in AER formation during chick limb development. Dev. Dyn. 233 (2005) 282-287
24. Tiret A., and Parc C. Fundus lesions of adenomatous polyposis. Curr. Opin. Ophthalmol. 10 (1999) 168-172
25. Burke J.M. Epithelial phenotype and the RPE: is the answer blowing in the Wnt?. Prog. Retin. Eye Res. 27 (2008) 579-595
26. Yi H., Nakamura R.E., Mohamed O., Dufort D., and Hackam A.S. Characterization of Wnt signaling during photoreceptor degeneration. Invest. Ophthalmol. Vis. Sci. 48 (2007) 5733-5741
27. Järvinen E., Salazar-Ciudad I., Birchmeier W., Taketo M.M., Jernvall J., and Thesleff I. Continuous tooth generation in mouse is induced by activated epithelial Wnt/beta-catenin signaling. Proc. Natl. Acad. Sci. USA 103 (2006) 18627-18632
28. Blanché H., Vexiau P., Clauin S., Le Gall I., Fiet J., Mornet E., Dausset J., and Bellanné-Chantelot C. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women. Hum. Genet. 101 (1997) 56-60
29. Hersh C.P., Dahl M., Ly N.P., Berkey C.S., Nordestgaard B.G., and Silverman E.K. Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis. Thorax 59 (2004) 843-849
30. Fischer H.P., Ortiz-Pallardo M.E., Ko Y., Esch C., and Zhou H. Chronic liver disease in heterozygous alpha1-antitrypsin deficiency PiZ. J. Hepatol. 33 (2000) 883-892
31. Vikkula M., Mariman E.C.M., Lui V.C.H., Zhidkova N.I., Tiller G.E., Goldring M.B., van Beersum S.E.C., de Waal Malefijt M.C., van den Hoogen F.H.J., Ropers H.H., et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80 (1995) 431-437
32. Van der Hout A.H., Oudesluijs G.G., Venema A., Verheij J.B.G.M., Mol B.G.J., Rump P., Brunner H.G., Vos Y.J., and van Essen A.J. Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. Eur. J. Hum. Genet. 16 (2008) 673-679
33. Kangas A.T., Evans A.R., Thesleff I., and Jernvall I. Nonindependence of mammalian dental characters. Nature 432 (2004) 211-214
34. Tummers M., and Thesleff I. The importance of signal pathway modulation in all aspects of tooth development. J. Exp. Zoolog. B Mol. Dev. Evol. 312B (2009) 309-319
35. Ellegren H., and Parsch J. The evolution of sex-biased genes and sex-biased gene expression. Nat. Rev. Genet. 8 (2007) 689-698
36. Yang X., Schadt E.E., Wang S., Wang H., Arnold A.P., Ingram-Drake L., Drake T.A., and Lusis A.J. Tissue-specific expression and regulation of sexually dimorphic genes in mice. Genome Res. 16 (2006) 995-1004
37. Acharya A.B., and Mainali S. Sex discrimination potential of buccolingual and mesiodistal tooth dimensions. Forensic Sci. Int. 173 (2008) 47-56
38. Guatelli-Steinberg D., Sciulli P.W., and Betsinger T.K. Dental crown size and sex hormone concentrations: another look at the development of sexual dimorphism. Am. J. Phys. Anthropol. 137 (2008) 324-333
39. Witkop Jr. C.J. Agenesis of succedaneous teeth: an expression of the homozygous state of the gene for the pegged or missing maxillary lateral incisor trait. Am. J. Med. Genet. 26 (1987) 431-436
40. Woolf C.M. Missing maxillary lateral incisors: a genetic study. Am. J. Hum. Genet. 23 (1971) 289-296
41. Hoo J.J. Anodontia of permanent teeth (OMIM #206780) and pegged/missing maxillary lateral incisors (OMIM #150400) in the same family. Am. J. Med. Genet. 90 (2000) 326-327
42. Cramer M. Case report of complete anodontia of the permanent dentition. Am. J. Orthod. 33 (1947) 760-764
43. Gorlin R.J., Herman N.G., and Moss S.J. Complete absence of the permanent dentition: an autosomal recessive disorder. Am. J. Med. Genet. 5 (1980) 207-209
44. Burzynski N., and Escobar V. Classification genetics of numeric anomalies of dentition. Birth Defects 13 (1983) 95-106