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Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

Molecular autism - 30 Sept 2024

Yin Rui, Wack Maxime, Hassen-Khodja Claire, McDuffie Michael T, Bliss Geraldine, Horn Elizabeth J, Kothari Cartik, McLarney Brittany, Davis Rebecca, Hanson Kristen, O'Boyle Megan, Betancur Catalina, Avillach Paul

Abstract excerpt

BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3. It is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic...

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Identifiers

PMID: 39350236
DOI: 10.1186/s13229-024-00619-z
PMCID: PMC11443936

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