S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, H E Shamseldin, N Patel, M Hashem, N Ibrahim, F Abdulwahab, N Ewida, H S Alsaif, H Al Sharif, W Alamoudi, A Kentab, F A Bashiri, M Alnaser, A H AlWadei, M Alfadhel, W Eyaid, A Hashem, A Al Asmari, M M Saleh, A AlSaman, K A Alhasan, M Alsughayir, M Al Shammari, A Mahmoud, Z N Al-Hassnan, M Al-Husain, R Osama Khalil, N Abd El Meguid, A Masri, R Ali, T Ben-Omran, P El Fishway, A Hashish, A Ercan Sencicek, M State, A M Alazami, M A Salih, N Altassan, S T Arold, M Abouelhoda, S M Wakil, D Monies, R Shaheen, F S Alkuraya
Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. In this study, we prospectively assessed the diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in a cohort of 337 ID subjects as a first-tier test and compared it with a standard clinical evaluation performed in parallel. Standard clinical evaluation suggested a diagnosis in 16% of cases (54/337) but only 70% of these (38/54) were subsequently confirmed. On the other hand, the genomic approach revealed a likely diagnosis in 58% (n=196)...
April 2017: Molecular Psychiatry