Atypical Prader–Willi Syndrome Deletions: Insights Into the Complex Regulation and Phenotypic Variability
This letter discusses two recent reports of Prader–Willi syndrome (PWS) cases with atypical deletions within the 15q11.2 region. The genetic and clinical complexity highlights the need for caution when interpreting individual cases, supports a symptom‐based management approach, and calls for controlled experimental research to elucidate the regulatory landscape of the PWS locus.
Authors
- Christian Patrick Schaaf (ORCID: https://orcid.org/0000-0002-2148-7490)
- Jannis Buecking
Institutions
- Heidelberg University (DE)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1002/mgg3.70131
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00