Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

Anna Morgan, Ilaria Gandin, Chiara Belcaro, Pietro Palumbo, Orazio Palumbo, Elisa Biamino, Valentina Dal Col, Erik Laurini, Sabrina Pricl, Paolo Bosco, Massimo Carella, Giovanni Battista Ferrero, Corrado Romano, Adamo Pio d'Adamo, Flavio Faletra, Diego Vozzi

Research output: Contribution to journalArticlepeer-review


The technological improvements over the last years made considerable progresses in the knowledge of the etiology of intellectual Disability (ID). However, at present very little is known about the genetic heterogeneity underlying the non-syndromic form of ID (NS-ID). To investigate the genetic basis of NS-ID we analyzed 43 trios and 22 isolated NS-ID patients using a targeted sequencing (TS) approach. 71 NS-ID genes have been selected and sequenced in all subjects. We found putative pathogenic mutations in 7 out of 65 patients. The pathogenic role of mutations was evaluated through sequence comparison and structural analysis was performed to predict the effect of alterations in a 3D computational model through molecular dynamics simulations. Additionally, a deep patient clinical re-evaluation has been performed after the molecular results. This approach allowed us to find novel pathogenic mutations with a detection rate close to 11% in our cohort of patients. This result supports the hypothesis that many NS-ID related genes still remain to be discovered and that NS-ID is a more complex phenotype compared to syndromic form, likely caused by a complex and broad interaction between genes alterations and environment factors.

Original languageEnglish
Pages (from-to)32-36
Number of pages5
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Publication statusPublished - Nov 1 2015


  • Genetic diagnosis
  • Non-syndromic intellectual disability
  • Targeted sequencing

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis
  • Medicine(all)


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