Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry
This is the largest reported case series of individuals with PMS. Overall, we demonstrate the feasibility of using data from a family-sourced registry to conduct genotype-phenotype analyses in rare genetic disorders. We replicate and strengthen previous findings, and reveal novel associations between larger 22q13 deletions and congenital heart defects, neuroimaging abnormalities and recurrent infections.
Authors
- Geraldine Bliss (ORCID: https://orcid.org/0000-0002-8552-9856)
- Megan O'Boyle (ORCID: https://orcid.org/0000-0002-8281-4168)
- Paul Avillach (ORCID: https://orcid.org/0000-0002-0235-7543)
- Cartik R. Kothari
- Rebecca Davis (ORCID: https://orcid.org/0000-0002-8629-3144)
- Brittany McLarney
- Claire Hassen‐Khodja
- Kristen Hanson
- Rui Yin (ORCID: https://orcid.org/0000-0002-1403-0396)
- Catalina Betancur (ORCID: https://orcid.org/0000-0002-3327-4804)
- Maxime Wack (ORCID: https://orcid.org/0000-0002-4989-5533)
- Michael McDuffie
- Elizabeth J. Horn
Institutions
- Centre National de la Recherche Scientifique (FR)
- Harvard University (US)
- Inserm (FR)
- University of Florida Health (US)
- Sorbonne Université (FR)
- Institut de Biologie Paris-Seine (FR)
- Rome Foundation (US)
Publication Details
- Journal
- Molecular Autism
- Published
- 2024-09-30
- DOI
- https://doi.org/10.1186/s13229-024-00619-z
- Citations
- 4
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 2.20
Funders
- Patient-Centered Outcomes Research Institute
- Institut National de la Santé et de la Recherche Médicale
- National Institutes of Health