Article
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
American journal of human genetics - 7 May 2015
Weaver K Nicole, Watt Kristin E Noack, Hufnagel Robert B, Navajas Acedo Joaquin, Linscott Luke L, Sund Kristen L, Bender Patricia L, König Rainer, Lourenco Charles M, Hehr Ute, Hopkin Robert J, Lohmann Dietmar R, Trainor Paul A, Wieczorek Dagmar, Saal Howard M
Abstract excerpt
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...
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