TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

• Published in: Human mutation Vol. 41; no. 1; pp. 182 - 195
• Main Authors: Chen, Weisheng, Lin, Jiachen, Wang, Lianlei, Li, Xiaoxin, Zhao, Sen, Liu, Jiaqi, Akdemir, Zeynep C., Zhao, Yanxue, Du, Renqian, Ye, Yongyu, Song, Xiaofei, Zhang, Yuanqiang, Yan, Zihui, Yang, Xinzhuang, Lin, Mao, Shen, Jianxiong, Wang, Shengru, Gao, Na, Yang, Ying, Liu, Ying, Li, Wenli, Liu, Jia, Zhang, Na, Yang, Xu, Xu, Yuan, Zhang, Jianguo, Delgado, Mauricio R., Posey, Jennifer E., Qiu, Guixing, Rios, Jonathan J., Liu, Pengfei, Wise, Carol A., Zhang, Feng, Wu, Zhihong, Lupski, James R., Wu, Nan
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.01.2020
• Subjects: Alleles; Cell Line; compound inheritance model; Congenital defects; congenital scoliosis (CS); Etiology; Female; Gene dosage; Gene Expression; Genes, Reporter; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; genotype–phenotype correlation; Haploinsufficiency; Haplotypes; Heredity; Humans; Inheritance Patterns; Localization; Male; Models, Molecular; Molecular Diagnostic Techniques; Molecular modelling; Mutation, Missense; Phenotype; Phenotypes; Protein Conformation; Radiography; Scoliosis; Sequence Analysis, DNA; Spine - abnormalities; Spine - diagnostic imaging; Structure-Activity Relationship; T-Box Domain Proteins - chemistry; T-Box Domain Proteins - genetics; TBX6 gene; Transcription; Whole Exome Sequencing; gene dosage; compound inheritance model; congenital scoliosis (CS); TBX6 gene; genotype-phenotype correlation

Congenital scoliosis (CS) is a birth defect with variable clinical and anatomical manifestations due to spinal malformation. The genetic etiology underlying about 10% of CS cases in the Chinese population is compound inheritance by which the gene dosage is reduced below that of haploinsufficiency. I...