Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis Academic Article uri icon

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  • Genetic testing for non-specific intellectual disability (ID) presents challenges in daily clinical practice. Historically, the focus of the genetic elucidation of non-specific ID has been on genes on the X chromosome, and recent research has brought attention to the growing contribution of autosomal genes. In addition, next-generation sequencing (NGS) has greatly improved the ability to simultaneously analyze multiple genetic loci, making large panel testing a practical approach to testing for non-specific ID. We performed NGS analysis of a total of 90 genes implicated in non-specific ID. The 90 genes included 56 X-linked genes and 34 autosomal genes. Pathogenic variants were identified in 11 of 52 (21%) patient samples. Nine of the eleven cases harbored mutations in autosomal genes including AP4B1, STXB1, SYNGAP1, TCF4 and UBE3A. Our mutation-positive cases provide further evidence supporting the prevalence of autosomal mutations in patients referred for non-specific ID testing and the utility of their inclusion in multi-gene panel analysis.


  • Tan, CA
  • Topper, S
  • del Gaudio, D
  • Nelakuditi, V
  • Shchelochkov, O
  • Nowaczyk, Malgorzata
  • Zeesman, S
  • Brady, L
  • Russell, L
  • Meeks, N
  • Sastry, S
  • Arndt, K
  • Kobiernicki, F
  • Shaw, R
  • Das, S

publication date

  • April 2016