Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family

Gene

Volumn 491, Issue 2, 2012, Pages 246-250

  Liu, Ying ^a   Yu, Xiaoyan ^b   Wang, Lei ^a   Li, Chang ^a   Archacki, Stephen ^c   Huang, Changzheng ^d   Liu, Jing Yu ^a   Wang, Qing ^a   Liu, Mugen ^a   Tang, Zhaohui ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b Xiaogan Center Hospital   (China)

^c LERNER RESEARCH INSTITUTE   (United States)

^d HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

Ectodysplasin A; Missense mutation; TNF like domain; X linked hypohidrotic ectodermal dysplasia

Indexed keywords

ECTODYSPLASIN A;

ADULT; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SEX DIFFERENCE;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ECTODYSPLASINS; HUMANS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE;

EID: 81455124785     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2011.10.009     Document Type: Article

References (27)

1. Cui C.Y., Hashimoto T., Grivennikov S.I., Piao Y., Nedospasov S.A., Schlessinger D. Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation. Proc. Natl. Acad. Sci. 2006, 103:9142-9147.
2. Smahi A., et al. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. Nature 2000, 405:466-472.
3. Shimomura Y., Sato N., Miyashita A., Hashimoto T., Ito M., Kuwano R. A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. J. Investig. Dermatol. 2004, 123:649-655.
4. Jorgenson R.J., Dowben J.S., Dowben S.L. Autosomal dominant ectodermal dysplasia. J. Craniofac. Genet. Dev. Biol. 1987, 7:403-412.
5. Aswegan A.L., Josephson K.D., Mowbray R., Pauli R.M., Spritz R.A., Williams M.S. Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. Am. J. Med. Genet. 1997, 72:462-467.
6. Nakata M., Koshiba H., Eto K., Nance W.E. A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. Am. J. Hum. Genet. 1980, 32:908-919.
7. Pinheiro M., Freire-Maia N. Christ-Siemens-Touraine syndrome-a clinical and genetic analysis of a large Brazilian kindred. I. Affected females. II. Affected males. III. Carrier detection. Am. J. Med. Genet. 1979, 4:113-134.
8. Saksena S.S., Bixler D. Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia. Am. J. Med. Genet. 1990, 35:105-114.
9. Clarke A., Sarfarazi M., Thomas N.S.T., Roberts K., Harper P.S. X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. Hum. Genet. 1987, 75:378-380.
10. Monreal A.W., 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.
11. Kere J., et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat. Genet. 1996, 13:409-416.
12. Bayes M., et al. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum. Mol. Genet. 1998, 7:1661-1669.
13. 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. Molec. Genet. 1999, 8:2079-2086.
14. Chen Y., et al. Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. Proc. Natl. Acad. Sci. 2001, 98:7218-7223.
15. Yan M., et al. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science 2000, 290:523-527.
16. Cui C.Y., et al. EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice. Hum. Molec. Genet. 2002, 11:1763-1773.
17. Zonana J., et al. Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. Am. J. Hum. Genet. 1993, 52:78-84.
18. Mikkola M.L. Molecular aspects of hypohidrotic ectodermal dysplasia. Am. J. Med. Genet. A 2009, 149A(9):2031-2036.
19. Bal E., et al. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum. Mutat. 2007, 28:703-709.
20. Headon D.J., et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 2001, 414:913-916.
21. Cluzeau C., et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum. Mutat. 2011, 32:70-72.
22. Schneider P., 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. Banner D.W., et al. Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation. Cell 1993, 73:431-445.
24. Pääkkönen K., et al. The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Hum. Mutat. 2001, 17:349.
25. Zhang J., et al. Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations. Eur. J. Med. Genet. 2011, Mar 30. [Epub ahead of print].
26. Li S., et al. Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A). PLoS One 2008, 3:e2396.
27. Huang C., et al. 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.