Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

Lauren O'Grady, Samantha A. Schrier Vergano, Trevor L. Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz-Rogers, Wendy K. Chung, Stephanie Sacharow, Ladonna L. Immken, Susan Holder, Rebecca R. Blackwell, Catherine Buchanan, Roman Yusupov, François Lecoquierre, Anne Marie Guerrot, Lance Rodan, Bert B.A. de Vries, Erik Jan Kamsteeg, Fernando Santos SimarroMaria Palomares-Bralo, Natasha Brown, Lynn Pais, Alejandro Ferrer, Eric W. Klee, Dusica Babovic-Vuksanovic, Lindsay Rhodes, Richard Person, Amber Begtrup, Jennifer Keller-Ramey, Teresa Santiago-Sim, Rhonda E. Schnur, David A. Sweetser, Nina B. Gold

Research output: Contribution to journalArticlepeer-review


The pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA precursors. Previously, heterozygous pathogenic variants in PRPF8 have been associated with autosomal dominant retinitis pigmentosa. More recently, PRPF8 was suggested as a candidate gene for autism spectrum disorder due to the enrichment of sequence variants in this gene in individuals with neurodevelopmental disorders. We report 14 individuals with various forms of neurodevelopmental conditions, found to have heterozygous, predominantly de novo, missense, and loss-of-function variants in PRPF8. These individuals have clinical features that may represent a new neurodevelopmental syndrome.

Original languageEnglish (US)
Pages (from-to)2750-2759
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Issue number9
StatePublished - Sep 2022


  • autism
  • exome sequencing
  • neurodevelopmental disabilities
  • retinitis pigmentosa

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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