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

TitleTBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.
Publication TypeJournal Article
Year of Publication2019
AuthorsYang, N, Wu, N, Zhang, L, Zhao, Y, Liu, J, Liang, X, Ren, X, Li, W, Chen, W, Dong, S, Zhao, S, Lin, J, Xiang, H, Xue, H, Chen, L, Sun, H, Zhang, J, Shi, J, Zhang, S, Lu, D, Wu, X, Jin, L, Ding, J, Qiu, G, Wu, Z, Lupski, JR, Zhang, F
JournalHum Mol Genet
Volume28
Issue4
Pagination539-547
Date Published2019 02 15
ISSN1460-2083
KeywordsAdolescent, Alleles, Animals, Child, Child, Preschool, Congenital Abnormalities, CRISPR-Cas Systems, Disease Models, Animal, Female, Haploinsufficiency, Humans, Infant, Male, Mice, Mutation, Phenotype, Scoliosis, Spine, T-Box Domain Proteins
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 than haploinsufficiency (i.e.

DOI10.1093/hmg/ddy358
Alternate JournalHum. Mol. Genet.
PubMed ID30307510
PubMed Central IDPMC6489408
Grant ListUM1 HG006542 / HG / NHGRI NIH HHS / United States