Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: Phenotypic appearance and speech problems

Genetics and Molecular Research

Volumn 9, Issue 2, 2010, Pages 941-948

  Khabour, O F ^a   Mesmar, F S ^a   Al Tamimi, F ^a   Al Batayneh, O B ^a   Owais, A I ^a  

^a JORDAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Jordan)

Author keywords

Ectodermal dysplasia; EDA; Jordan; Mutation

Indexed keywords

ARGININE; CYSTEINE; DNA; ECTODYSPLASIN A;

ADULT; AMINO ACID SUBSTITUTION; ANHIDROSIS; ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; DISEASE SEVERITY; DNA ISOLATION; DNA SEQUENCE; FAMILY; FEMALE; GENETIC ANALYSIS; HEAT INTOLERANCE; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; HYPOTRICHOSIS; JORDAN; MALE; MISSENSE MUTATION; OLIGODONTIA; PHENOTYPE; PROTEIN DOMAIN; SCHOOL CHILD; SPEECH DISORDER; SWEAT GLAND DISEASE; X CHROMOSOME LINKED DISORDER; FAMILY HEALTH; GENETICS; SWEAT GLAND; TOOTH MALFORMATION;

ADULT; CHILD; ECCRINE GLANDS; ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ECTODYSPLASINS; FAMILY HEALTH; FEMALE; HUMANS; HYPOHIDROSIS; HYPOTRICHOSIS; JORDAN; MALE; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; SPEECH DISORDERS; TOOTH ABNORMALITIES;

EID: 77954440401     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/vol9-2gmr810     Document Type: Article

References (33)

1. Bayes M, Hartung AJ, Ezer S, Pispa J, et al. (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.
2. Chao SC, Chung CH, Yang CC, Yang MH, et al. (2003). Mutation analysis of X-linked hypohidrotic ectodermal dysplasia in a Taiwanese family. J. Formos. Med. Assoc. 102: 412-417.
3. Chassaing N, Bourthoumieu S, Cossee M, Calvas P, et al. (2006). Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum. Mutat. 27: 255-259.
4. Cui CY and Schlessinger D (2006). EDA signaling and skin appendage development. Cell Cycle 5: 2477-2483.
5. Cui CY, Kunisada M, Esibizione D, Douglass EG, et al. (2009). Analysis of the temporal requirement for EDA in hair and sweat gland development. J. Invest. Dermatol. 129: 984-993.
6. Dhanrajani PJ and Jiffry AO (1998). Management of ectodermal dysplasia: a literature review. Dent. Update 25: 73-75.
7. Ezer S, Bayes M, Elomaa O, Schlessinger D, et al. (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.
8. Fan H, Ye X, Shi L, Yin W, et al. (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.
9. Ferguson BM, Thomas NS, Munoz F, Morgan D, et al. (1998). Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. J. Med. Genet. 35: 112-115.
10. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, et al. (2001). Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 414: 913-916.
11. Huang C, Yang Q, Ke T, Wang H, et al. (2006). A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia. J. Hum. Genet. 51: 1133-1137.
12. Kere J, Srivastava AK, Montonen O, Zonana J, et al. (1996). X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat. Genet. 13: 409-416.
13. Kupietzky A and Houpt M (1995). Hypohidrotic ectodermal dysplasia: characteristics and treatment. Quintessence Int. 26: 285-291.
14. Lamartine J (2003). Towards a new classification of ectodermal dysplasias. Clin. Exp. Dermatol. 28: 351-355.
15. Lin TK, Huang CY, Lin MH and Chao SC (2004). A novel 7-bp deletion mutation in a Taiwanese family with X-linked hypohidrotic ectodermal dysplasia. Clin. Exp. Dermatol. 29: 536-538.
16. Monreal AW, Zonana J and 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.
17. Na GY, Kim DW, Lee SJ, Chung SL, et al. (2004). Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo. Pediatr. Dermatol. 21: 568-572.
18. Paakkonen K, Cambiaghi S, Novelli G, Ouzts LV, et al. (2001). The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Hum. Mutat. 17: 349.
19. Park JW, Hwang JY, Lee SY, Lee JS, et al. (1999). A case of hypohidrotic ectodermal dysplasia. J. Dermatol. 26: 44-47.
20. Priolo M and Lagana C (2001). Ectodermal dysplasias: a new clinical-genetic classification. J. Med. Genet. 38: 579-585.
21. Schneider P, Street SL, Gaide O, Hertig S, 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.
22. Sekiguchi H, Wang XJ, Minaguchi K and Yakushiji M (2005). A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia. Int. J. Paediatr. Dent. 15: 73-77.
23. Sharma PS, Ludwig RJ, Pruhs RJ and Sharma A (1978). Articulation implications in a case of anhidrotic ectodermal dysplasia and partial anodontia. ASDC J. Dent. Child 45: 385-391.
24. Shimomura Y, Sato N, Miyashita A, Hashimoto T, et al. (2004). A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. J. Invest. Dermatol. 123: 649-655.
25. Tao R, Jin B, Guo SZ, Qing W, et al. (2006). A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. J. Hum. Genet. 51: 498-502.
26. Tariq M, Wasif N, Ayub M and Ahmad W (2007). A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. Eur. J. Dermatol. 17: 209-212.
27. Vincent MC, Biancalana V, Ginisty D, Mandel JL, et al. (2001). Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur. J. Hum. Genet. 9: 355-363.
28. Vinolo E, Sebban H, Chaffotte A, Israel A, et al. (2006). A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide-and tumor necrosis factor-mediated NF-kappa B activation. J. Biol. Chem. 281: 6334-6348.
29. Wisniewski SA, Kobielak A, Trzeciak WH and Kobielak K (2002). Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors. J. Appl. Genet. 43: 97-107.
30. Yan M, Wang LC, Hymowitz SG, Schilbach S, et al. (2000). Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science 290: 523-527.
31. Yavuz I, Baskan Z, Ulku R, Dulgergil TC, et al. (2006). Ectodermal dysplasia: Retrospective study of fifteen cases. Arch. Med. Res. 37: 403-409.
32. Yavuz I, Kiralp S and Baskan Z (2008). Hypohidrotic ectodermal dysplasia: a case report. Quintessence Int. 39: 81-86.
33. Zonana J (1993). Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications. Semin. Dermatol. 12: 241-246.