POLA2 ‐Related Coats Plus Syndrome: Case Presentation and Description of an Emerging Disorder
We report an adult male with bilateral retinal vascular disease, hypocellular bone marrow failure, severe gastrointestinal bleeding, and premature hair graying, with telomere lengths near the 10th percentile. Exome sequencing resulted in the diagnosis of POLA2-related Coats plus syndrome, making him the sixth reported case.
Authors
- Mercy Laurino (ORCID: https://orcid.org/0000-0001-7152-5048)
- Daniel Serber
- Marshall S. Horwitz (ORCID: https://orcid.org/0000-0002-1683-1680)
- Runjun D. Kumar (ORCID: https://orcid.org/0000-0001-7369-5956)
- Ankita Jhuraney (ORCID: https://orcid.org/0009-0000-1206-5467)
- Sioḃán Keel (ORCID: https://orcid.org/0000-0002-9599-8226)
- Claire L Wittowski
- Angel Li
Institutions
- University of Washington (US)
- Fred Hutch Cancer Center (US)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2026-11-02
- DOI
- https://doi.org/10.1111/cge.70277
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00