Viewpoints in dermatology ● Correspondence
A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl
K. Lei,
K. Lei
Pediatric Institute, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China
Search for more papers by this author Y. Zhang,
Y. Zhang
Neurological and Endocrine Department of Pediatric Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China
Search for more papers by this author Z. Dong,
Z. Dong
Pediatric Institute, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China
Search for more papers by this author Y. Sun,
Y. Sun
Ophtalmology Department of Central Hospital of Qingdao, Second Clinical Medical College of Qingdao University, Qingdao, Shandong, China
Search for more papers by this author Z. Yi,
Z. Yi
Neurological and Endocrine Department of Pediatric Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China
Search for more papers by this author Z. Chen,
Z. Chen
Neurological and Endocrine Department of Pediatric Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China
Search for more papers by this author
K. Lei,
K. Lei
Pediatric Institute, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China
Search for more papers by this author Y. Zhang,
Y. Zhang
Neurological and Endocrine Department of Pediatric Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China
Search for more papers by this author Z. Dong,
Z. Dong
Pediatric Institute, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China
Search for more papers by this author Y. Sun,
Y. Sun
Ophtalmology Department of Central Hospital of Qingdao, Second Clinical Medical College of Qingdao University, Qingdao, Shandong, China
Search for more papers by this author Z. Yi,
Z. Yi
Neurological and Endocrine Department of Pediatric Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China
Search for more papers by this author Z. Chen,
Z. Chen
Neurological and Endocrine Department of Pediatric Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China
Search for more papers by this author
First published: 22 September 2017
No abstract is available for this article.
References
- 1Mikkola ML, Pispa J, Pekkanen M et al. Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion. Mech Dev 1999; 88: 133–46.
- 2Clauss F, Chassaing N, Smahi A et al. X-linked and autosomal recessive hypohidrotic ectodermal dysplasia: genotypic-dental phenotypic findings. Clin Genet 2010; 78: 257–66.
- 3Fete M, Hermann J, Behrens J et al. X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry. Am J Med Genet A 2014; 164A: 2437–42.
- 4Pavlovsky M, Fuchs-Telem D, Nousbeck J et al. Molecular evidence for the role of X-chromosome inactivation in linear presentation of X-linked hypohidrotic ectodermal dysplasia. Clin Exp Dermatol 2012; 37: 186–8.
- 5Ørstavik KH, Knudsen GP, Nordgarden H et al. Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. Am J Med Genet A 2007; 143A: 1510–3.
