From ectodermal dysplasia to selective tooth agenesis

American Journal of Medical Genetics, Part A

Volumn 149, Issue 9, 2009, Pages 2037-2041

  Mues, Gabriele I ^a   Griggs, Rachel ^b   Hartung, Andrew J ^b   Whelan, Greg ^c   Best, Lyle G ^d   Srivastava, Anand K ^b   D'Souza, Rena ^a  

^a BAYLOR COLLEGE OF DENTISTRY   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

^c PHOENIX INDIAN MEDICAL CENTER   (United States)

^d UNIVERSITY OF NORTH DAKOTA   (United States)

Author keywords

EDA gene; Genotype phenotype relationship; Hypohidrotic ectodermal dysplasia; Selective tooth agenesis

Indexed keywords

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

AMERICAN INDIAN; ARTICLE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPODONTIA; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MUTATION; PHENOTYPE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; DENTAL ENAMEL HYPOPLASIA; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; FAMILY; FEMALE; GENOTYPE; HUMANS; HYPOHIDROSIS; INDIANS, NORTH AMERICAN; MALE; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; TOOTH;

EID: 69249124211     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32801     Document Type: Article

References (18)

1. Bayés 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. (Pubitemid 28464141)
2. Chassaing N, Bourthoumieu S, Cossee M, Calvas M, Vincent MC. 2006. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mut 27:255-259.
3. Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J. 2001. Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. Hum Mol Genet 10:953-962. (Pubitemid 32401412)
4. Fan H, Ye X, Shi L, Yin W, Hua B, Song G, Shi B, Bian Z. 2008. Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds. Eur J Oral Sci 116: 412-417.
5. Han D, Gong Y, Wu H, Zhang X, Yan M, Wang X, Qu H, Feng H, Song S. 2008. Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. Eur J Med Genet 51:536-546.
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. 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13:409-416. (Pubitemid 26256613)
7. Lexner MO, Bardow A, Hertz JM, Nielsen LA, Kreiborg S. 2007. Anomalies of tooth formation in hypohidrotic ectodermal dysplasia. Internat J Paed Dent 17:10-18. (Pubitemid 44895283)
8. Lexner MO, Bardow A, Juncker I, Jensen LG, Almer L, Kreiborg S, Hertz JM. 2008. X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. Clin Genet 74:252-259.
9. Li S, Li J, Cheng J, Zhou B, Tong X, Dong X, Wang Z, Hu Q, Chen M, Hua ZC. 2008. Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutation in the TNF domain of EDA (ectodysplasin A). PLoS ONE 3:e2396. 10.1371/journal.pone. 0002396.
10. Monreal A, Zonana J, Ferguson B. 1998. 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 63:380-389. (Pubitemid 30418619)
11. Monreal A, 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. (Pubitemid 29369528)
12. Rasool M, Schuster J, Aslam M, Tariq M, Ahmad I, Ali A, Entesarian M, Dahl N, Baig SM. 2008. A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia. J Hum Genet 53:894-898.
13. Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J. 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)
14. Srivastava AK, Pispa J, Hartung AJ, Du Y, Ezer S, Jenks T, Shimada T, Pekkanen M, Mikkola M, Ko MSH, Thesleff I, Kere J, Schlessinger D. 1997. The tabby phenotype is caused by mutations in a mouse homologue of the EDA gene that reveals novel mouse andhumanexons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci USA 94:13069-13074. (Pubitemid 27518477)
15. Tao R, Jin B, Guo SZ, Qing W, Feng GY, Brooks DG, Liu L, Xu J, Li T, Yan Y, He L. 2006. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. J Hum Genet 51:498-502. (Pubitemid 43863790)
16. Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Futreal PA, Wooster R, Kamath S, Nayak R, Stratton MR, Patel PI. 2007. A novel Gln358Glu mutation in ectodysplasin-a associated with X-linked dominant incisor hypodontia. Am J Med Genet 143A:390-394. (Pubitemid 46214206)
17. The International Incontinentia Pigmenti Consortium. 2000. Genomic rearrangement in NEMO impairs NF-kappa-B activation and is a cause of incontinentia pigmenti. Nature 405:466-472.
18. Zonana J, Clarke A, Sarfarazi M, Thomas NST, Roberts K, Marymee K, Harper PS. 1988. X-linked hypohidrotic ectodermal dysplasia: Localization within the region Xq11-21. 1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Am J Hum Genet 43:75-85. (Pubitemid 18187351)