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Clin Genet. 2016 Apr;89(4):478-483. doi: 10.1111/cge.12575. Epub 2015 Mar 15.

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

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Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Division of Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.
Department of Pediatrics, McMaster University, Hamilton, ON, Canada.
Department of Medical Genetics, Montreal General Hospital, Montreal, QC, Canada.
Department of Pediatrics, Section of Genetics, University of Colorado, Aurora, CO, USA.
Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI, USA.


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.


X-linked chromosome; autosomal; intellectual disability; next-generation sequencing; non-specific


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