Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

doi:10.1016/j.ajhg.2020.06.019

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Article

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

American journal of human genetics - 3 Sept 2020

Fliedner Anna, Kirchner Philipp, Wiesener Antje, van de Beek Irma, Waisfisz Quinten, van Haelst Mieke, Scott Daryl A, Lalani Seema R, Rosenfeld Jill A, Azamian Mahshid S, Xia Fan, Dutra-Clarke Marina, Martinez-Agosto Julian A, Lee Hane, Noh Grace J, Lippa Natalie, Alkelai Anna, Aggarwal Vimla, Agre Katherine E, Gavrilova Ralitza, Mirzaa Ghayda M, Straussberg Rachel, Cohen Rony, Horist Brooke, Krishnamurthy Vidya, McWalter Kirsty, Juusola Jane, Davis-Keppen Laura, Ohden Lisa, van Slegtenhorst Marjon, de Man Stella A, Ekici Arif B, Gregor Anne, van de Laar Ingrid, Zweier Christiane

Abstract excerpt

RNA polymerase II interacts with various other complexes and factors to ensure correct initiation, elongation, and termination of mRNA transcription. One of these proteins is SR-related CTD-associated factor 4 (SCAF4), which is important for correct usage of polyA sites for mRNA termination. Using exome sequencing and international matchmaking, we identified nine likely pathogenic germline variants in SCAF4...

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Identifiers

PMID: 32730804
DOI: 10.1016/j.ajhg.2020.06.019
PMCID: PMC7477272

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