P203: Medical biases and misconceptions impact Rett syndrome diagnoses in males
Rett syndrome (RTT) is a rare neurodevelopmental disorder typically caused by loss-of-function variants in the transcriptional regulator methyl-CpG binding protein-2 (MECP2) gene. As an X-linked condition, RTT was historically believed to be incompatible with life in males. However, recent advances in genetic testing have revealed more males with MECP2 variants than previously known, and significant clinical heterogeneity. A broadly distributed phenotype within a rare disorder makes phenotypic recognition difficult.
Authors
- Amitha Ananth (ORCID: https://orcid.org/0000-0002-9671-2883)
- Jane B. Lane (ORCID: https://orcid.org/0000-0003-0602-9325)
- Lori Silveira (ORCID: https://orcid.org/0000-0002-2826-7036)
- Jeffrey L. Neul (ORCID: https://orcid.org/0000-0002-5628-5872)
- Tim A. Benke (ORCID: https://orcid.org/0000-0002-6969-5061)
- Dennis Gurfinkel (ORCID: https://orcid.org/0009-0009-1946-3105)
- Eric D. Marsh (ORCID: https://orcid.org/0000-0003-3264-0902)
- Talia Thompson (ORCID: https://orcid.org/0000-0001-6512-9743)
- Alan K. Percy (ORCID: https://orcid.org/0000-0002-9873-5472)
- Cary Fu (ORCID: https://orcid.org/0000-0001-7720-9249)
- Kate Ferdinandsen
Institutions
- Vanderbilt University (US)
- University of Colorado System (US)
- University of Alabama at Birmingham (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102168
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00