Ann Dermatol.
2014 Feb;26(1):111-113. 10.5021/ad.2014.26.1.111.
One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia
- Affiliations
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- 1Institute of Dermatology, Anhui Medical University, Anhui, China. ayzxj@vip.sina.com
- 2The MOE Key Laboratory of Dermatology, The First Affiliated Hospital of Anhui Medical University, Anhui, China.
- 3Departments of Dermatology and Venereology, The First Affiliated Hospital of Anhui Medical University, Anhui, China.
- KMID: 2265708
- DOI: http://doi.org/10.5021/ad.2014.26.1.111
Abstract
- No abstract available.
Figure
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Fig. 1 The proband and his uncle had similar symptoms and clinical onset. Both their parents were healthy. Clinical features of the proband. (A) Sparse hair, (B) hypodontia, (C) extra ear malformation, (D) abnormal nail.
Fig. 2 Mutational analysis of the ED1 gene. (A) ATG; the patient showed a point mutation at nucleotide 1133 (C>T). (B) ANG; heterozygous double peaks of nucleotide C and T at the same position in his mother. (C) ACG; father and normal controls.
Reference
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1. Zhang J, Han D, Song S, Wang Y, Zhao H, Pan S, 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; 54:e377–e382.
Article2. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996; 13:409–416.
Article3. Zhang H, Quan C, Sun LD, Lv HL, Gao M, Zhou FS, et al. A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia. Clin Exp Dermatol. 2009; 34:74–76.
Article4. Zhang XJ, Chen JJ, Song YX, Yang S, Xiong XY, Zhang AP, et al. Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia. Arch Dermatol Res. 2003; 295:38–42.
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