Ontology highlight
ABSTRACT:
SUBMITTER: Weaver KN
PROVIDER: S-EPMC4570288 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Weaver K Nicole KN Watt Kristin E Noack KE Hufnagel Robert B RB Navajas Acedo Joaquin J Linscott Luke L LL Sund Kristen L KL Bender Patricia L PL König Rainer R Lourenco Charles M CM Hehr Ute U Hopkin Robert J RJ Lohmann Dietmar R DR Trainor Paul A PA Wieczorek Dagmar D Saal Howard M HM
American journal of human genetics 20150423 5
We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1. All three individuals exhibit varying degrees of mandibulofacial dysostosis, and two additionally have limb anomalies. Consistent with this observation, we discovered that polr1a mutant zebrafish exhibited cranioskeletal anomalies mimicking the human phenotype. p ...[more]