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The Genetics of Autism Spectrum Disorders – A Guide for Clinicians

  • Genetic Disorders (JF Cubells and EB Binder, Section Editors)
  • Published:
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Abstract

Recent advances in genetic testing technology have made chromosome microarray analysis (CMA) a first-tier clinical diagnostic test for Autism Spectrum Disorders (ASDs). Two main types of microarrays are available, single nucleotide polymorphism (SNP) arrays and array comparative genomic hybridization (aCGH), each with its own advantages and disadvantages in ASDs testing. Rare genetic variants, and copy number variants (CNVs) in particular, have been shown to play a major role in ASDs. More than 200 autism susceptibility genes have been identified to date, and complex patterns of inheritance, such as oligogenic heterozygosity, appear to contribute to the etiopathogenesis of ASDs. Incomplete penetrance and variable expressivity represent particular challenges in the interpretation of CMA testing of autistic individuals. This review aims to provide an overview of autism genetics for the practicing physician and gives hands-on advice on how to follow-up on abnormal CMA findings in individuals with neuropsychiatric disorders.

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Acknowledgments

Dr. Schaaf ’s work is generously supported by the Joan and Stanford Alexander family and the Ting Tsung and Wei Fong Chao Foundation. Dr. Schaaf is the recipient of a Doris Duke Clinical Scientist Development Award.

Disclosure

K.M. Heil: none; C.P. Schaaf is a faculty member of the Department of Molecular and Human Genetics at Baylor College of Medicine, which derives revenue from chromosomal microarray analysis and whole exome sequencing offered in the Medical Genetics Laboratory.

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Authors and Affiliations

  1. Faculty of Medicine, University of Heidelberg, Im Neuenheimer Feld 134b, 69120, Heidelberg, Germany

    Karsten M. Heil

  2. Department of Molecular and Human Genetics, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute, 1250 Moursund St, Suite 1350, Houston, TX, 77030, USA

    Christian P. Schaaf

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  1. Karsten M. Heil
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Correspondence to Christian P. Schaaf.

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This article is part of the Topical Collection on Genetic Disorders

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Heil, K.M., Schaaf, C.P. The Genetics of Autism Spectrum Disorders – A Guide for Clinicians. Curr Psychiatry Rep 15, 334 (2013). https://doi.org/10.1007/s11920-012-0334-3

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  • DOI: https://doi.org/10.1007/s11920-012-0334-3

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