Article
Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.
Pediatric research - 1 Apr 2009
Gunadi, Miura Kenji, Ohta Mika, Sugano Aki, Lee Myeong Jin, Sato Yumi, Matsunaga Akiko, Hayashi Kazuhiro, Horikawa Tatsuya, Miki Kazunori, Wataya-Kaneda Mari, Katayama Ichiro, Nishigori Chikako, Matsuo Masafumi, Takaoka Yutaka, Nishio Hisahide
Abstract excerpt
X-linked hypohidrotic ectodermal dysplasia (XLHED), which is characterized by hypodontia, hypotrichosis, and hypohidrosis, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA). This protein belongs to the tumor necrosis factor ligand superfamily. We analyzed ED1 in two Japanese patients with XLHED. In patient 1, we identified a 4-nucleotide insertion, c.119-120insTGTG, in exon 1, which led to a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.