Article
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
Nature genetics - 1 Apr 2013
Saitsu Hirotomo, Nishimura Taki, Muramatsu Kazuhiro, Kodera Hirofumi, Kumada Satoko, Sugai Kenji, Kasai-Yoshida Emi, Sawaura Noriko, Nishida Hiroya, Hoshino Ai, Ryujin Fukiko, Yoshioka Seiichiro, Nishiyama Kiyomi, Kondo Yukiko, Tsurusaki Yoshinori, Nakashima Mitsuko, Miyake Noriko, Arakawa Hirokazu, Kato Mitsuhiro, Mizushima Noboru, Matsumoto Naomichi
Abstract excerpt
Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is a recently established subtype of neurodegeneration with brain iron accumulation (NBIA). By exome sequencing, we found de novo heterozygous mutations in WDR45 at Xp11.23 in two individuals with SENDA, and three additional WDR45 mutations were identified in three other subjects by Sanger sequencing. Using lymphoblastoid cell lines...
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