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The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype
Giorgia Buoncuore1, Marco Salvatore1, Adele Rocchetti1
1Undiagnosed Rare Diseases Interdepartmental Unit, National Center Rare Diseases Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy.
European Journal of Medical Genetics
|January 12, 2026
Summary
The Italian Angelman syndrome registry (IReAS) collected data from 213 patients, revealing common symptoms like developmental delay and epilepsy. This registry facilitates genotype-phenotype correlation studies for Angelman syndrome (AS).
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Angelman syndrome (AS) is a rare genetic disorder causing developmental delays, seizures, and behavioral issues.
- A dedicated Italian AS registry (IReAS) was established to assess data collection feasibility and explore genotype-phenotype relationships.
Purpose of the Study:
- To present preliminary findings from the Italian AS registry (IReAS).
- To investigate genotype-phenotype correlations in Angelman syndrome patients.
Main Methods:
- The IReAS was established in 2020, collecting data from 14 Italian referral centers.
- Data includes demographics, genetics, patient status, treatments, and mortality.
- 213 patients were enrolled between 2020 and 2024.
Main Results:
- Most patients (70.4%) had maternal deletion; 63% were pediatric.
- Common symptoms include global developmental delay (100%), movement disorders (94.8%), behavioral abnormalities (96.2%), and lack of language (95.8%).
- Epilepsy prevalence was 80.3%, higher in maternal deletion cases (88%) vs. non-deletion (61.9%).
Conclusions:
- The IReAS offers comprehensive data on AS diagnosis, genetics, and clinical features.
- It supports genotype-phenotype correlation analyses for understanding AS natural history.
- Findings may inform research into targeted therapies for Angelman syndrome.
