POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

doi:10.1016/j.ajhg.2023.03.014

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Article

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

American journal of human genetics - 4 May 2023

Smallwood Kelly, Watt Kristin E N, Ide Satoru, Baltrunaite Kristina, Brunswick Chad, Inskeep Katherine, Capannari Corrine, Adam Margaret P, Begtrup Amber, Bertola Debora R, Demmer Laurie, Demo Erin, Devinsky Orrin, Gallagher Emily R, Guillen Sacoto Maria J, Jech Robert, Keren Boris, Kussmann Jennifer, Ladda Roger, Lansdon Lisa A, Lunke Sebastian, Mardy Anne, McWalters Kirsty, Person Richard, Raiti Laura, Saitoh Noriko, Saunders Carol J, Schnur Rhonda, Skorvanek Matej, Sell Susan L, Slavotinek Anne, Sullivan Bonnie R, Stark Zornitza, Symonds Joseph D, Wenger Tara, Weber Sacha, Whalen Sandra, White Susan M, Winkelmann Juliane, Zech Michael, Zeidler Shimriet, Maeshima Kazuhiro, Stottmann Rolf W, Trainor Paul A, Weaver K Nicole

Abstract excerpt

Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. The predominant phenotypes observed in the cohort of 3 individuals were craniofacial anomalies reminiscent of Treacher Collins syndrome. We subsequently identified 17 additional individuals with 12 unique heterozygous variants in...

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Identifiers

PMID: 37075751
DOI: 10.1016/j.ajhg.2023.03.014
PMCID: PMC10183370

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