Article
TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 28 Jan 2014
Ochiai Hiroshi, Miyamoto Tatsuo, Kanai Akinori, Hosoba Kosuke, Sakuma Tetsushi, Kudo Yoshiki, Asami Keiko, Ogawa Atsushi, Watanabe Akihiro, Kajii Tadashi, Yamamoto Takashi, Matsuura Shinya
Abstract excerpt
Cancer-prone syndrome of premature chromatid separation with mosaic variegated aneuploidy [PCS (MVA) syndrome] is a rare autosomal recessive disorder characterized by constitutional aneuploidy and a high risk of childhood cancer. We previously reported monoallelic mutations in the BUB1B gene (encoding BUBR1) in seven Japanese families with the syndrome. No second mutation was found in the opposite allele of any...
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