EDA gene mutations underlie non-syndromic oligodontia

Journal of Dental Research

Volumn 88, Issue 2, 2009, Pages 126-131

  Song, S ^a   Han, D ^b   Qu, H ^b   Gong, Y ^b   Wu, H ^b   Zhang, X ^b   Zhong, N ^a,c   Feng, H ^b  

^a PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

^b PEKING UNIVERSITY   (China)

^c NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

EDA gene; Mutation; Non syndromic; Oligodontia

Indexed keywords

ECTODYSPLASIN A; EDA PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; GENETICS; HUMAN; HYPODONTIA; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; X CHROMOSOME LINKED DISORDER;

AMINO ACID SUBSTITUTION; ANODONTIA; DNA MUTATIONAL ANALYSIS; ECTODYSPLASINS; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MUTATION, MISSENSE;

EID: 62649120465     PISSN: 00220345     EISSN: None     Source Type: Journal    
DOI: 10.1177/0022034508328627     Document Type: Article

References (21)

1. Burzynski NJ, Escobar VH (1983). Classification and genetics of numeric anomalies of dentition. Birth Defects Orig Artic Ser 19:95-106.
2. Daugaard-Jensen J, Nodal M, Kjaer I (1997). Pattern of agenesis in the primary dentition: a radiographic study of 193 cases. Int J Paediatr Dent 7:3-7. (Pubitemid 127488499)
3. Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J (1999). 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 8:2079-2086. (Pubitemid 29458736)
4. Frazier-Bowers SA, Scott MR, Cavender A, Mensah J, D'Souza RN (2002). Mutational analysis of families affected with molar oligodontia. Connect Tissue Res 43:296-300. (Pubitemid 34777939)
5. Graber LW (1978). Congenital absence of teeth: a review with emphasis on inheritance patterns. J Am Dent Assoc 96:266-275.
6. Hymowitz SG, O'Connell MP, Ultsch MH, Hurst A, Totpal K, Ashkenazi A, et al. (2000). A unique zinc-binding site revealed by a high-resolution x-ray structure of homotrimeric Ap02L/TRAIL. Biochemistry 39:633-640. (Pubitemid 30065031)
7. Hymowitz SG, Compaan DM, Yan M, Wallweber HJ, Dixit VM, Starovasnik MA, et al. (2003). The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity. Structure 11:1513-1520. (Pubitemid 37510350)
8. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, et al. (1996). X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13:409-416. (Pubitemid 26256613)
9. Kim JW, Simmer JP, Lin BP, Hu JC (2006). Novel MSX1 frameshift causes autosomal-dominant oligodontia. J Dent Res 85:267-271. (Pubitemid 43827736)
10. Lammi L, Arte S, Somer M, Järvinen H, Lahermo P, Thesleff I, et al. (2004). Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 74:1043-1050. (Pubitemid 38568974)
11. Lexner MO, Bardow A, Hertz JM, Nielsen LA, Kreiborg S (2007). Anomalies of tooth formation in hypohidrotic ectodermal dysplasia. Int J Paediatr Dent 17:10-18. (Pubitemid 44895283)
12. Mikkola ML, Thesleff I (2003). Ectodysplasin signaling in development. Cytokine Growth Factor Rev 14:211-224.
13. Pemberton TJ, Das P, Patel PI (2005). Hypodontia: genetics and future perspectives. Braz J Oral Sci 4:695-706.
14. Polder BJ, Van't Hof MA, Van der Linden FP, Kuijpers-Jagtman AM (2004). A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent Oral Epidemiol 32:217-226.
15. Scarel RM, Trevilatto PC, di Hipolito O Jr, Camargo LE, Line SR (2000). Absence of mutations in the homeodomain of the MSX1 gene in patients with hypodontia. Am J Med Genet 92:346-349. (Pubitemid 30341478)
16. Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, et al. (2001). 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 276:18819-18827. (Pubitemid 37411199)
17. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (2000). Mutation of PAX9 is associated with oligodontia. Nat Genet 24:18-19.
18. Tao R, Jin B, Guo SZ, Qing W, Feng GY, Brooks DG, et al. (2006). A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. J Hum Genet 51:498-502. (Pubitemid 43863790)
19. Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, et al. (2007). A novel gln358glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Am J Med Genet A 143:390-394. (Pubitemid 46214206)
20. Vastardis H (2000). The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop 117:650-656.
21. Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE (1996). A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 13:417-421. (Pubitemid 26256614)