Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
| Title: | Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations |
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| Authors: | Valentino F; Bruno LP; Doddato G; Giliberti A; Tita R; Resciniti S; Fallerini C; Bruttini M; Lo Rizzo C; Mencarelli MA; Mari F; Pinto AM; Fava F; Baldassarri M; Fabbiani A; Lamacchia V; Benetti E; Zguro K; Furini S; Renieri A; Ariani F |
| Contributors: | Valentino, F; Bruno, L; Doddato, G; Giliberti, A; Tita, R; Resciniti, S; Fallerini, C; Bruttini, M; Lo Rizzo, C; Mencarelli, M; Mari, F; Pinto, A; Fava, F; Baldassarri, M; Fabbiani, A; Lamacchia, V; Benetti, E; Zguro, K; Furini, S; Renieri, A; Ariani, F |
| Publisher Information: | MDPI; CH |
| Publication Year: | 2021 |
| Collection: | Università degli Studi di Milano-Bicocca: BOA (Bicocca Open Archive) |
| Subject Terms: | Autism spectrum disorder al; Exome sequencing; Intellectual disability; Settore MEDS-01/A - Genetica medica |
| Description: | Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevel-opmental 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. |
| Document Type: | article in journal/newspaper |
| File Description: | ELETTRONICO |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/34356170; info:eu-repo/semantics/altIdentifier/wos/WOS:000676726000001; volume:11; issue:7; journal:BRAIN SCIENCES; https://hdl.handle.net/10281/467120 |
| DOI: | 10.3390/brainsci11070936 |
| Availability: | https://hdl.handle.net/10281/467120; https://doi.org/10.3390/brainsci11070936 |
| Rights: | info:eu-repo/semantics/openAccess ; license:Creative Commons ; license uri:http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: | edsbas.F2281545 |
| Database: | BASE |