Happle Rudolf
Department of Dermatology, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
J Invest Dermatol. 2017 Aug;137(8):1619-1621. doi: 10.1016/j.jid.2017.04.003. Epub 2017 Jun 16.
The etiology of Becker's nevus and Becker's nevus syndrome has been until now unknown. Cai et al. provide evidence that these disorders are caused by lethal mutations in ACTB, a gene coding for beta-actin. They hypothesize that these mutations may interfere with Hedgehog pathway signaling. Their findings have important implications for clinical genetics, and they open new aspects in hair research.
贝克尔痣及贝克尔痣综合征的病因至今尚不明确。蔡等人提供了证据表明这些病症是由编码β-肌动蛋白的基因ACTB中的致死性突变所引起的。他们推测这些突变可能会干扰刺猬信号通路。他们的研究结果对临床遗传学具有重要意义，并为毛发研究开辟了新的方向。
