Ontology highlight
ABSTRACT:
SUBMITTER: Wehrle A
PROVIDER: S-EPMC6328090 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Wehrle Anika A Witkos Tomasz M TM Schneider Judith C JC Hoppmann Anselm A Behringer Sidney S Köttgen Anna A Elting Mariet M Spranger Jürgen J Lowe Martin M Lausch Ekkehart E
JCI insight 20181206 23
Biallelic loss-of-function mutations in TRIP11, encoding the golgin GMAP-210, cause the lethal human chondrodysplasia achondrogenesis 1A (ACG1A). We now find that a homozygous splice-site mutation of the lamin B receptor (LBR) gene results in the same phenotype. Intrigued by the genetic heterogeneity, we compared GMAP-210- and LBR-deficient primary cells to unravel how particular mutations in LBR cause a phenocopy of ACG1A. We could exclude a regulatory interaction between LBR and GMAP-210 in pa ...[more]