RT Journal Article
SR Electronic
T1 Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 545772
DO 10.1101/545772
A1 Maria Cristina Aspromonte
A1 Mariagrazia Bellini
A1 Alessandra Gasparini
A1 Marco Carraro
A1 Elisa Bettella
A1 Roberta Polli
A1 Federica Cesca
A1 Stefania Bigoni
A1 Stefania Boni
A1 Ombretta Carlet
A1 Susanna Negrin
A1 Isabella Mammi
A1 Donatella Milani
A1 Angela Peron
A1 Stefano Sartori
A1 Irene Toldo
A1 Fiorenza Soli
A1 Licia Turolla
A1 Franco Stanzial
A1 Francesco Benedicenti
A1 Cristina Marino-Buslje
A1 Silvio C.E. Tosatto
A1 Alessandra Murgia
A1 Emanuela Leonardi
YR 2019
UL http://biorxiv.org/content/early/2019/02/10/545772.abstract
AB Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically heterogeneous diseases. Recent whole exome sequencing studies indicated that genes associated with different neurological diseases are shared across disorders and converge on common functional pathways. Using the Ion Torrent platform, we developed a low-cost next generation sequencing (NGS) gene panel that has been transferred into clinical practice, replacing single disease gene analyses for the early diagnosis of individuals with ID/ASD. The gene panel was designed using an innovative in silico approach based on disease networks and mining data from public resources to score disease-gene associations. We analyzed 150 unrelated individuals with ID and/or ASD and a confident diagnosis has been reached in 26 cases (17%). Likely pathogenic mutations have been identified in another 15 patients, reaching a total diagnostic yield of 27%. Our data also support the pathogenic role of genes recently proposed to be involved in ASD. Although many of the identified variants need further investigation to be considered disease-causing, our results indicate the efficiency of the targeted gene panel on the identification of novel and rare variants in patients with ID and ASD.