Open AccessIncreasedTBX6gene dosages induce congenital cervical vertebral malformations in humans and mice
Author(s) -
Xiaojun Ren,
Nan Yang,
Nan Wu,
Ximing Xu,
Weisheng Chen,
Ling Zhang,
Yingping Li,
Renqian Du,
Shuangshuang Dong,
Sen Zhao,
Shuxia Chen,
Liping Jiang,
Lianlei Wang,
Jianguo Zhang,
Zhihong Wu,
Li Jin,
Guixing Qiu,
James R. Lupski,
Jiangang Shi,
Feng Zhang,
Pengfei Liu
Publication year - 2019
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2019-106333
Subject(s) - gene duplication , gene dosage , genetics , medicine , biology , gene , gene expression
Congenital vertebral malformations (CVMs) manifest with abnormal vertebral morphology. Genetic factors have been implicated in CVM pathogenesis, but the underlying pathogenic mechanisms remain unclear in most subjects. We previously reported that the human 16p11.2 BP4-BP5 deletion and its associated TBX6 dosage reduction caused CVMs. We aim to investigate the reciprocal 16p11.2 BP4-BP5 duplication and its potential genetic contributions to CVMs.