Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of hereditary hair loss. It is characterized by sparse or absent scalp hair, eyebrows, and eyelashes at birth. Coarse and wiry hair is progressively lost in this disease. Responsive mutations are found in U2HR, an inhibitory upstream open reading frame in the 5'-untranslated region of the HR gene. Recently, a missense mutation of EPS8L3 in MUHH has been identified.
Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nothen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X
タイトル
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ
タイトル
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
