P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants
RERE is located within the proximal critical region for 1p36 deletion syndrome and encodes a nuclear receptor co-regulator that plays essential roles in development. Heterozygous pathogenic RERE variants cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; MIM 605226). Previous studies have implicated missense variants affecting RERE's Atrophin-1 domain with an increased risk of structural eye defects, congenital heart defects, renal anomalies, and sensorineural hearing loss when compared to loss-of-function variants, and a recurrent c.4313_4318dupTCCACC variant has been shown to cause phenotypes reminiscent of CHARGE syndrome.
Authors
- Kierstin Keller
- Müge Güçsavaş‐Çalıkoğlu (ORCID: https://orcid.org/0000-0001-7132-385X)
- Shelagh Joss (ORCID: https://orcid.org/0000-0002-4887-9726)
- Colette DeFilippo
- Sandra T. Cooper (ORCID: https://orcid.org/0000-0002-7314-5097)
- Christelle Moufawad El Achkar (ORCID: https://orcid.org/0000-0003-0497-8172)
- Mahshid S. Azamian (ORCID: https://orcid.org/0000-0002-8543-8284)
- Tony Roscioli (ORCID: https://orcid.org/0000-0003-1502-5000)
- Seema R. Lalani (ORCID: https://orcid.org/0000-0003-0707-657X)
- Nichole Owen (ORCID: https://orcid.org/0000-0003-2691-3636)
- Hannes Syryn (ORCID: https://orcid.org/0000-0002-0914-2676)
- Sarah Josephi‐Taylor
- Alanna Strong (ORCID: https://orcid.org/0000-0001-9261-244X)
- Neena L. Champaigne (ORCID: https://orcid.org/0000-0001-5120-2030)
- Koen L.I. van Gassen (ORCID: https://orcid.org/0000-0001-7934-0662)
- Adam Bournazos (ORCID: https://orcid.org/0000-0002-6464-4548)
- Marco Tartaglia (ORCID: https://orcid.org/0000-0001-7736-9672)
- Gabriela M. Repetto (ORCID: https://orcid.org/0000-0003-0120-5684)
- Betsy Schmalz
- Kim L. McBride (ORCID: https://orcid.org/0000-0002-8407-8942)
- Yezmin Perilla‐Young
- Manuela Priolo (ORCID: https://orcid.org/0000-0002-4815-9550)
- Himanshu Goel (ORCID: https://orcid.org/0000-0001-6448-6618)
- Víctor Faúndes (ORCID: https://orcid.org/0000-0002-6746-0103)
- Yael Shiloh‐Malawsky (ORCID: https://orcid.org/0009-0001-6956-6163)
- Elfride De Baere (ORCID: https://orcid.org/0000-0002-5609-6895)
- Olivia Thompson (ORCID: https://orcid.org/0000-0003-2969-4774)
- Marco Ferilli (ORCID: https://orcid.org/0000-0002-9883-311X)
- Daryl A. Scott (ORCID: https://orcid.org/0000-0003-1460-5169)
- Xiaonan Zhao (ORCID: https://orcid.org/0000-0003-1722-357X)
- David J. Curtis (ORCID: https://orcid.org/0000-0001-9497-0996)
- Joseph Shen (ORCID: https://orcid.org/0000-0002-5604-7639)
- Martine Cools (ORCID: https://orcid.org/0000-0002-9552-4899)
- Julie Lauzon
- Bimal Chaudhari
- Luigi Chiratti
- Radio Clementina
- Marie-José van den Boogard
Institutions
- University of North Carolina at Chapel Hill (US)
- New South Wales Department of Health (AU)
- Nationwide Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- Medical University of South Carolina (US)
- Baylor College of Medicine (US)
- Ghent University Hospital (BE)
- Alberta Children's Hospital (CA)
- Children's Hospital at Westmead (AU)
- University Medical Center Utrecht (NL)
- UNSW Sydney (AU)
- Ospedale Antonio Cardarelli (IT)
- Azienda ospedaliera "Bianchi-Melacrino-Morelli" (IT)
- Prince of Wales Hospital (CN)
- Institut thématique Génétique, génomique et bioinformatique (FR)
- Bambino Gesù Children's Hospital (IT)
- Sydney Children’s Hospitals Network (AU)
- Epilepsy Foundation (AU)
- University of California Davis Medical Center (US)
- UC Davis Health (US)
- Genomic Health (United States) (US)
- Instituto de Nutricion e Higiene de los Alimentos (CU)
- The Ohio State University (US)
- University of Newcastle Australia (AU)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102286
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00