Ontology highlight
ABSTRACT:
SUBMITTER: Yang N
PROVIDER: S-EPMC6489408 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Yang Nan N Wu Nan N Zhang Ling L Zhao Yanxue Y Liu Jiaqi J Liang Xiangyu X Ren Xiaojun X Li Weiyu W Chen Weisheng W Dong Shuangshuang S Zhao Sen S Lin Jiachen J Xiang Hang H Xue Huadan H Chen Lu L Sun Hao H Zhang Jianguo J Shi Jiangang J Zhang Shuyang S Lu Daru D Wu Xiaohui X Jin Li L Ding Jiandong J Qiu Guixing G Wu Zhihong Z Lupski James R JR Zhang Feng F
Human molecular genetics 20190201 4
Congenital vertebral malformations (CVMs) are associated with human TBX6 compound inheritance that combines a rare null allele and a common hypomorphic allele at the TBX6 locus. Our previous in vitro evidence suggested that this compound inheritance resulted in a TBX6 gene dosage of less than haploinsufficiency (i.e. <50%) as a potential mechanism of TBX6-associated CVMs. To further investigate this pathogenetic model, we ascertained and collected 108 Chinese CVM cases and found that 10 (9.3%) o ...[more]