title: p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.
abstract: Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Caucasians, is caused by mutations in CF transmembrane conductance regulator gene (CFTR). We and others previously identified CFTR mutations in 20 Chinese patients with CF. In this study, eight Chinese patients with a clinical diagnosis of suspected CF were newly collected and screened for CFTR mutations using a combination of conventional Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis. The CFTR mutations observed in Chinese CF patients, both reported previously and identified in the present study, were also summarized. In the newly collected patients, we identified 10 different CFTR mutations, including p.F508del, the most common CF-causing mutation in Caucasians, and three novel mutations (p.V1212Afs*15; p.L666* and p.A969A). Most notably, the previously reported p.G970D mutation was found in six patients, making it the most frequent CFTR mutation identified in Chinese CF patients thus far. In conclusion, we detected p.F508del for the first time, identified additional novel CFTR mutations and recorded the most frequent CF-causing mutation in Chinese CF patients.
authors.affiliation: Department of Respiratory Medicine, Peking Union Medical College Hospital , Beijing, China.
authors.forename: Xinlun
authors.initials: X
authors.lastname: Tian
authors.affiliation: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College , Beijing, China.
authors.forename: Yaping
authors.initials: Y
authors.lastname: Liu
authors.affiliation: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College , Beijing, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Yang
authors.affiliation: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College , Beijing, China.
authors.forename: Han
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Respiratory Medicine, Peking Union Medical College Hospital , Beijing, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Liu
authors.affiliation: Department of Respiratory Medicine, Peking Union Medical College Hospital , Beijing, China.
authors.forename: Wenbing
authors.initials: W
authors.lastname: Xu
authors.affiliation: Department of Respiratory Medicine, Peking Union Medical College Hospital , Beijing, China.
authors.forename: Xue
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Respiratory Medicine, Peking Union Medical College Hospital , Beijing, China.
authors.forename: Yuanjue
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Department of Respiratory Medicine, Peking Union Medical College Hospital , Beijing, China.
authors.forename: Kai-Feng
authors.initials: KF
authors.lastname: Xu
authors.affiliation: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College , Beijing, China.
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang