TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice

• Published in: Human molecular genetics Vol. 28; no. 4; pp. 539 - 547
• Main Authors: Yang, Nan, Wu, Nan, Zhang, Ling, Zhao, Yanxue, Liu, Jiaqi, Liang, Xiangyu, Ren, Xiaojun, Li, Weiyu, Chen, Weisheng, Dong, Shuangshuang, Zhao, Sen, Lin, Jiachen, Xiang, Hang, Xue, Huadan, Chen, Lu, Sun, Hao, Zhang, Jianguo, Shi, Jiangang, Zhang, Shuyang, Lu, Daru, Wu, Xiaohui, Jin, Li, Ding, Jiandong, Qiu, Guixing, Wu, Zhihong, Lupski, James R, Zhang, Feng
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 15.02.2019
• Subjects: Adolescent; Alleles; Animals; Child; Child, Preschool; Congenital Abnormalities - diagnostic imaging; Congenital Abnormalities - genetics; Congenital Abnormalities - physiopathology; CRISPR-Cas Systems - genetics; Disease Models, Animal; Female; Haploinsufficiency; Humans; Infant; Male; Mice; Mutation; Phenotype; Scoliosis - diagnostic imaging; Scoliosis - genetics; Scoliosis - physiopathology; Spine - abnormalities; Spine - diagnostic imaging; Spine - physiopathology; T-Box Domain Proteins - genetics

Abstract 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 th...