P258: Phenotypic predictors of dual genetic diagnosis in people with autism
A major goal of SPARK (Simons Foundation Powering Autism Research for Knowledge), a cohort with sequencing data on 58,247 individuals with autism, is to return new genetic diagnoses related to autism. Previous analyses have shown that SPARK identified at least one likely pathogenic/pathogenic (LP/P) variant in 8.6% of autistic individuals, but the phenotypic presentations of people with more than one LP/P variant has not been investigated. The objective of this study was to characterize the phenotype of 102 individuals with two LP/P variants related to autism to identify phenotypic features that distinguish individuals with dual diagnoses.
Authors
- Pamela Feliciano (ORCID: https://orcid.org/0000-0003-4266-1301)
- Alexandra Goler
- Jacob B. Hall
- Jessica Wright (ORCID: https://orcid.org/0000-0002-2731-7804)
- Wendy Chung
Institutions
- Boston Children's Hospital (US)
- Simons Foundation (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102223
- Primary Topic
- Autism Spectrum Disorder Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00