Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Summary: De novo germline variation in POLR2A was recently reported to associate with a neurodevelopmental disorder. We report twelve individuals harboring putatively pathogenic de novo or inherited variants in POLR2A, detail their phenotypes, and map all known variants to the domain structure of PO...

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Bibliografski detalji

Glavni autori:	Adam W. Hansen, Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Z. Rossetti, Joy Jayaseelan, Ingrid Cristian, Devon Haynes, Stephanie DiTroia, Naomi Meeks, Mauricio R. Delgado, Jill A. Rosenfeld, Lynn Pais, Susan M. White, Qingchang Meng, Davut Pehlivan, Pengfei Liu, Marie-Claude Gingras, Michael F. Wangler, Donna M. Muzny, James R. Lupski, Craig D. Kaplan, Richard A. Gibbs
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2021-01-01
Serija:	HGG Advances
Teme:	POLR2A Pol II RNA polymerase II Mendelian disease developmental disorder phenotypic expansion
Online pristup:	http://www.sciencedirect.com/science/article/pii/S2666247720300142
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