Article
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome.
American journal of medical genetics. Part A - 15 Feb 2006
Matsuura Shinya, Matsumoto Yoshiyuki, Morishima Ken-ichi, Izumi Hideki, Matsumoto Hiroshi, Ito Emi, Tsutsui Keisuke, Kobayashi Junya, Tauchi Hiroshi, Kajiwara Yoshinori, Hama Seiji, Kurisu Kaoru, Tahara Hidetoshi, Oshimura Mitsuo, Komatsu Kenshi, Ikeuchi Tatsuro, Kajii Tadashi
Abstract excerpt
Cancer-prone syndrome of premature chromatid separation (PCS syndrome) with mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by growth retardation, microcephaly, childhood cancer, premature chromatid separation of all chromosomes, and mosaicism for various trisomies and monosomies. Biallelic BUB1B mutations were recently reported in five of eight families with MVA syndrome...
Topics
- Abnormalities, Multiple
- Alleles
- Amino Acid Sequence
- Blotting, Western
- Cdc20 Proteins
- Cell Cycle Proteins
- Cells, Cultured
- Child
- Child, Preschool