Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis

Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood. The authors identified EPS8L3 as a disease gene for MUHH by combining exome sequencing with previously established linkage information in a large multi-generation MUHH family of Chinese population. Our results were very valuable and shed light on the importance of the EGF pathway for normal hair growth and function. Further biological studies of EPS8L3 would throw new insights into the genetic etiology and pathophysiology of MUHH. (By Dr. Xuejun Zhang, http://jmg.bmj.com/content/early/2012/10/24/jmedgenet-2012-101134 )