Letter to the Editor
Novel nonsense mutation of the EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia
Hao Wang,
Corresponding Author
Hao Wang
Hangzhou First People's Hospital, Hangzhou, Zhejiang, China
Correspondence: Hao Wang, M.S., Central laboratory, Hangzhou First People's Hospital, 261 Huansha Road, Hangzhou, Zhejiang 310006, China. Email:
[email protected]Search for more papers by this author Le-si Xie,
Le-si Xie
Hangzhou First People's Hospital, Hangzhou, Zhejiang, China
Search for more papers by this author
Hao Wang,
Corresponding Author
Hao Wang
Hangzhou First People's Hospital, Hangzhou, Zhejiang, China
Correspondence: Hao Wang, M.S., Central laboratory, Hangzhou First People's Hospital, 261 Huansha Road, Hangzhou, Zhejiang 310006, China. Email:
[email protected]Search for more papers by this author Le-si Xie,
Le-si Xie
Hangzhou First People's Hospital, Hangzhou, Zhejiang, China
Search for more papers by this author
First published: 09 October 2014
No abstract is available for this article.
| Filename |
Description |
| jde12644-sup-0001-TableS1.docWord document, 33 KB |
Table S1.Primers used for all eight coding exons of the EDA gene. |
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References
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- 2Cluzeau C, Hadj-Rabia S, Jambou M 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.
- 3Kere J, Srivastava AK, Montonen O et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409–416.
- 4Vincent 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.
- 5Visinoni AF, de Souza RL, Freire-Maia N, Gollop TR, Chautard-Freire-Maia EA. X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families. Am J Med Genet A 2003; 122A: 51–55.
