Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA)

Journal of Dental Research

Volumn 92, Issue 6, 2013, Pages 507-511

  Nikopensius, T ^a,b   Annilo, T ^a   Jagomagi T ^a   Gilissen, C ^c   Kals, M ^b   Krjutskov K ^a,d   Magi R ^b   Eelmets, M ^a   Gerst Talas, U ^a   Remm, M ^a   Saag, M ^a   Hoischen, A ^c   Metspalu, A ^a,b  

^a UNIVERSITY OF TARTU   (Estonia)

^b UNIVERSITY OF TARTU   (Estonia)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d KAROLINSKA INSTITUTE   (Sweden)

Author keywords

EDA gene; exome sequencing; hypodontia oligodontia; mutation; X chromosome inactivation

Indexed keywords

ECTODYSPLASIN A; ECTODYSPLASIN RECEPTOR; EDA PROTEIN, HUMAN; GLUTAMINE; GUANINE; THYMINE; TUMOR NECROSIS FACTOR;

ALLELE; ARTICLE; CHROMOSOME MAP; EDA GENE; EXOME; EXOME SEQUENCING; FEMALE; GENE EXPRESSION; GENETIC VARIABILITY; GENETICS; HETEROZYGOTE; HUMAN; HYPODONTIA; HYPODONTIA/OLIGODONTIA; INDEL MUTATION; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; STRUCTURAL HOMOLOGY; TOOTH DEVELOPMENT; X CHROMOSOME INACTIVATION; X-CHROMOSOME INACTIVATION;

EDA GENE; EXOME SEQUENCING; HYPODONTIA/OLIGODONTIA; MUTATION; X-CHROMOSOME INACTIVATION;

ALLELES; ANODONTIA; CHROMOSOME MAPPING; CODON, NONSENSE; CONSERVED SEQUENCE; ECTODYSPLASINS; EXOME; FEMALE; GENE EXPRESSION; GENETIC VARIATION; GLUTAMINE; GUANINE; HETEROZYGOTE; HUMANS; INDEL MUTATION; MALE; ODONTOGENESIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, ECTODYSPLASIN; SEQUENCE ANALYSIS; SEQUENCE ANALYSIS, PROTEIN; SIGNAL TRANSDUCTION; STRUCTURAL HOMOLOGY, PROTEIN; THYMINE; TUMOR NECROSIS FACTORS; X CHROMOSOME INACTIVATION;

EID: 84877843794     PISSN: 00220345     EISSN: 15440591     Source Type: Journal    
DOI: 10.1177/0022034513487210     Document Type: Article

References (30)

1. Cambiaghi S, Restano L, Pääkkönen K, Caputo R, Kere J. Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. Arch Dermatol. 2000 ; 136: 217-224 (Pubitemid 30090761)
2. Courtney JM, Blackburn J, Sharpe PT. The ectodysplasin and NFkappaB signalling pathways in odontogenesis. Arch Oral Biol. 2005 ; 50: 159-163 (Pubitemid 40252933)
3. Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet. 1999 ; 8: 2079-2086 (Pubitemid 29458736)
4. Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet. 2010 ; 87: 418-423
5. Gorlin RJ, Cohen M, Hennekam R New York, NY: Oxford University Press ; 2001 :
6. Han D, Gong Y, Wu H, Zhang X, Yan M, Wang X, et al. Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. Eur J Med Genet. 2008 ; 51: 536-546
7. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001 ; 414: 913-916 (Pubitemid 34024742)
8. Hymowitz SG, Compaan DM, Yan M, Wallweber HJ, Dixit VM, Starovasnik MA, et al. The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity. Structure. 2003 ; 11: 1513-1520 (Pubitemid 37510350)
9. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996 ; 13: 409-416 (Pubitemid 26256613)
10. Kim JW, Simmer JP, Lin BP, Hu JC. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J Dent Res. 2006 ; 85: 267-271 (Pubitemid 43827736)
11. Lammi L, Arte S, Somer M, Järvinen H, Lahermo P, Thesleff I, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet. 2004 ; 74: 1043-1050 (Pubitemid 38568974)
12. Li S, Li J, Cheng J, Zhou B, Tong X, Dong X, et al. Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutation in the TNF domain of EDA (ectodysplasin A). PLoS ONE. 2008 ; 3: e2396
13. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol. 2004 ; 5: 89-99 (Pubitemid 38160252)
14. Migeon BR. Why females are mosaics, X-chromosome inactivation, and sex differences in disease. Gend Med. 2007 ; 4: 97-105 (Pubitemid 47245012)
15. Monreal AW, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet. 1998 ; 63: 380-389 (Pubitemid 30418619)
16. Mues G, Griggs R, Hartung AJ, Whelan G, Best LG, Srivastava AK, et al. From ectodermal dysplasia to selective tooth agenesis. Am J Med Genet A. 2009 ; 149A: 2037-2041
17. Mues G, Tardivel A, Willen L, Kapadia H, Seaman R, Frazier-Bowers S, et al. Functional analysis of ectodysplasin-A mutations causing selective tooth agenesis. Eur J Hum Genet. 2010 ; 18: 19-25
18. Nie X, Luukko K, Kettunen P. FGF signalling in craniofacial development and developmental disorders. Oral Dis. 2006 ; 12: 102-111
19. Polder BJ, Van't Hof MA, Van der Linden FP, Kuijpers-Jagtman AM. A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent Oral Epidemiol. 2004 ; 32: 217-226 (Pubitemid 41725355)
20. Pummila M, Fliniaux I, Jaatinen R, James MJ, Laurikkala J, Schneider P, et al. Ectodysplasin has a dual role in ectodermal organogenesis: inhibition of Bmp activity and induction of Shh expression. Development. 2007 ; 134: 117-125 (Pubitemid 46152712)
21. Rasool M, Schuster J, Aslam M, Tariq M, Ahmad I, Ali A, et al. A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia. J Hum Genet. 2008 ; 53: 894-898
22. Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, et al. 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: 18819-18827
23. Song S, Han D, Qu H, Gong Y, Wu H, Zhang X, et al. EDA gene mutations underlie non-syndromic oligodontia. J Dent Res. 2009 ; 88: 126-131
24. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. Mutation of PAX9 is associated with oligodontia. Nat Genet. 2000 ; 24: 18-19 (Pubitemid 30041414)
25. Tao R, Jin B, Guo SZ, Qing W, Feng GY, Brooks DG, et al. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. J Hum Genet. 2006 ; 51: 498-502 (Pubitemid 43863790)
26. Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, et al. A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Am J Med Genet A. 2007 ; 143: 390-394 (Pubitemid 46214206)
27. Thesleff I. The genetic basis of tooth development and dental defects. Am J Med Genet A. 2006 ; 140: 2530-2535 (Pubitemid 44868119)
28. Tucker AS, Headon DJ, Courtney JM, Overbeek P, Sharpe PT. The activation level of the TNF family receptor, Edar, determines cusp number and tooth number during tooth development. Dev Biol. 2004 ; 268: 185-194 (Pubitemid 38367860)
29. Vastardis H. The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop. 2000 ; 117: 650-656
30. Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet. 1996 ; 13: 417-421 (Pubitemid 26256614)