| Literature DB >> 34356170 |
Floriana Valentino1,2, Lucia Pia Bruno1,2, Gabriella Doddato1,2, Annarita Giliberti1,2, Rossella Tita3, Sara Resciniti1,2, Chiara Fallerini1,2, Mirella Bruttini1,3, Caterina Lo Rizzo3, Maria Antonietta Mencarelli3, Francesca Mari1,2,3, Anna Maria Pinto3, Francesca Fava1,2,3, Margherita Baldassarri1,2, Alessandra Fabbiani1,2,3, Vittoria Lamacchia1,2,3, Elisa Benetti2, Kristina Zguro2, Simone Furini2, Alessandra Renieri1,2,3, Francesca Ariani1,2,3.
Abstract
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to disease heterogeneity, identifying the etiology of ID and ASD remains challenging. Exome sequencing (ES) offers the opportunity to rapidly identify variants associated with these two entities that often co-exist. Here, we performed ES in a cohort of 200 patients: 84 with isolated ID and 116 with ID and ASD. We identified 41 pathogenic variants with a detection rate of 22% (43/200): 39% in ID patients (33/84) and 9% in ID/ASD patients (10/116). Most of the causative genes are genes responsible for well-established genetic syndromes that have not been recognized for atypical phenotypic presentations. Two genes emerged as new candidates: CACNA2D1 and GPR14. In conclusion, this study reinforces the importance of ES in the diagnosis of ID/ASD and underlines that "reverse phenotyping" is fundamental to enlarge the phenotypic spectra associated with specific genes.Entities:
Keywords: autism spectrum disorder; exome sequencing; intellectual disability
Year: 2021 PMID： 34356170 DOI： 10.3390/brainsci11070936
Source DB: PubMed Journal: Brain Sci ISSN： 2076-3425