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A case report of two male siblings with autism and duplication of Xq13–q21, a region including three genes predisposing for autism

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Abstract

Autism spectrum disorder, severe behaviour problems and duplication of the Xq12 to Xq13 region have recently been described in three male relatives. To describe the psychiatric comorbidity and dysmorphic features, including craniosynostosis, of two male siblings with autism and duplication of the Xq13 to Xq21 region, and attempt to narrow down the number of duplicated genes proposed to be leading to global developmental delay and autism. We performed DNA sequencing of certain exons of the TWIST1 gene, the FGFR2 gene and the FGFR3 gene. We also performed microarray analysis of the DNA. In addition to autism, the two male siblings exhibited severe learning disability, self-injurious behaviour, temper tantrums and hyperactivity, and had no communicative language. Chromosomal analyses were normal. Neither of the two siblings showed mutations of the sequenced exons known to produce craniosynostosis. The microarray analysis detected an extra copy of a region on the long arm of chromosome X, chromosome band Xq13.1–q21.1. Comparison of our two cases with previously described patients allowed us to identify three genes predisposing for autism in the duplicated chromosomal region. Sagittal craniosynostosis is also a new finding linked to the duplication.

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Acknowledgments

The authors would like to thank the two boys, patient 1 and patient 2, and their family for their very helpful cooperation, without which this study would not have been possible.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Gillberg Neuropsychiatry Centre, University of Gothenburg, Kungsgatan 12, SE-411 19, Göteborg, Sweden

    Elisabet Wentz & Christopher Gillberg

  2. Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden

    Mihailo Vujic, Ewa-Lotta Kärrstedt & Anna Erlandsson

  3. Department of Child and Adolescent Psychiatry, Yorkhill Hospital, Glasgow University, Glasgow, UK

    Christopher Gillberg

  4. Institute of Child Health, University College, London, UK

    Christopher Gillberg

Authors
  1. Elisabet Wentz
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  2. Mihailo Vujic
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  3. Ewa-Lotta Kärrstedt
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  4. Anna Erlandsson
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  5. Christopher Gillberg
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Correspondence to Elisabet Wentz.

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Wentz, E., Vujic, M., Kärrstedt, EL. et al. A case report of two male siblings with autism and duplication of Xq13–q21, a region including three genes predisposing for autism. Eur Child Adolesc Psychiatry 23, 329–336 (2014). https://doi.org/10.1007/s00787-013-0455-1

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  • DOI: https://doi.org/10.1007/s00787-013-0455-1

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