Article
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Human mutation - 1 Mar 2017
Takeda Kazuki, Kou Ikuyo, Kawakami Noriaki, Iida Aritoshi, Nakajima Masahiro, Ogura Yoji, Imagawa Eri, Miyake Noriko, Matsumoto Naomichi, Yasuhiko Yukuto, Sudo Hideki, Kotani Toshiaki, Nakamura Masaya, Matsumoto Morio, Watanabe Kota, Ikegawa Shiro
Abstract excerpt
Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence of 0.5-1/1,000 births. Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6. All patients had hemivertebrae. We recruited 94 Japanese CS patients, investigated...
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