Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in chinese kindreds

European Journal of Oral Sciences

Volumn 116, Issue 5, 2008, Pages 412-417

  Fan, Huali ^a   Ye, Xiaoqian ^a   Shi, Lisong ^b   Yin, Wei ^a   Hua, Bo ^a   Song, Guangtai ^a   Shi, Bin ^a   Bian, Zhuan ^a  

^a WUHAN UNIVERSITY   (China)

^b HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

EDA mutation; Hypodontia; Hypohidrotic ectodermal dysplasia; Sequencing; X linked

Indexed keywords

ECTODYSPLASIN A; EDA PROTEIN, HUMAN;

ARTICLE; ASIAN; CHILD; CHINA; EXON; FEMALE; GENETICS; HUMAN; HYPODONTIA; HYPOHIDROTIC ECTODERMAL DYSPLASIA; INTRON; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; RNA SPLICING; TOOTH DEVELOPMENT;

ANODONTIA; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ECTODYSPLASINS; EXONS; FEMALE; HUMANS; INTRONS; MALE; MUTATION, MISSENSE; ODONTOGENESIS; PEDIGREE; RNA SPLICE SITES;

EID: 51449099392     PISSN: 09098836     EISSN: 16000722     Source Type: Journal    
DOI: 10.1111/j.1600-0722.2008.00555.x     Document Type: Article

References (24)

1. Vastardis H. The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop 2000 117 : 650 656.
2. Peters H, Balling R. Teeth where and how to make them. Trends Genet 1999 15 : 59 65.
3. Clarke A, Phillipd DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987 62 : 989 996.
4. Pinheiro M, Freire-Maia N. Ectodermal dysplasia: a clinical classification and causal review. Am J Med Genet 1994 53 : 153 162.
5. Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet 2001 9 : 355 363.
6. 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. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996 13 : 409 416.
7. 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.
8. Bayes M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet 1998 11 : 1661 1669.
9. 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 surface of cells. Hum Mol Genet 1999 8 : 2079 2086.
10. Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, De Vos AM, Gao WQ, Dixit VM. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science 2000 290 : 523 527.
11. Srivastava AK, Pispa J, Hartung AJ, Du Y, Ezer S, Jenks T, Shimada T, Pekkanen M, Mikkola ML, Ko MS, Thesleff I, Kere J, Schlessinger D. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein ectodysplasin-A) with collagenous domains. PNAS 1997 94 : 13069 13074.
12. PääkköNen K, Cambiaghi S, Novelli G, Ouzts LV, Penttinen M, Kere J, Srivastsva AK. The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Hum Mutat 2001 17 : 349.
13. Zhang X, Chen J, Song Y, Yang S, Xiong X, Zhang A, He P, Gao M, Li Y, Lin D, Huang W. Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia. Arch Dermatol Res 2003 295 : 38 42.
14. Huang C, Yang Q, Ke T, Wang H, Wang X, Shen J, Tu X, Tian J, Liu J, Wang Q, Liu M. A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia. J Hum Genet 2006 51 : 1133 1137.
15. Zhao J, Hua R, Zhao X, Meng Y, Ao Y, Liu Q, Shang D, Sun M, Lo WHY, Zhang X. Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia. Br J Dermatol 2008 158 : 614 617.
16. Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J. Mutations leading to x-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J Bio Chem 2001 276 : 18819 18827.
17. Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J. Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. Hum Mol Genet 2001 10 : 953 962.
18. Kumar A, Eby MT, Sinha S, Jasmin A, Chaudhary PM. Ectodermal dysplasia receptor activates the nuclear factor κB, c-jun N-terminal kinase and cell death pathways and binds to ectodysplasin-A. J Biol Chem 2001 276 : 2668 2677.
19. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. Mutation of PAX9 is associated with oligodontia. Nat Genet 2000 24 : 18 19.
20. 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.
21. Lammi S, Arte S, Somer M, Järvinen H, Lahero P, Thesleff I. Mutation in AXIN2 cause familial tiith agenesis and predispose to colorectal cancer. Am J Hum Genet 2004 74 : 1043 1050.
22. Chishti MS, Muhammad D, Haider M, Ahmad W. A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental animalies in Pakistani families. J Hum Genet 2006 51 : 872 878.
23. Tao R, Jin B, Gou SZ, Qing W, Feng GY, Brooks DG, Liu L, Xu J, Li T, Yan Y, HE L. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. J Hum Genet 2006 51 : 498 502.
24. Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Futreal AP, Wooster R, Kamath S, Nayak R, Stratton MR, Patel P. A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Am J Med Genet 2007 143A : 390 394.