Investigation the etiology of syndromic autism with targeted gene analysis

Authors

  • Sinem Yalcintepe Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
  • Hakan Gurkan Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
  • Selma Demir Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
  • Leyla Bozatli Department of Child Psychiatry, Faculty of Medicine, Trakya University, Edirne, Turkey
  • Engin Atli Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
  • Menguhan Araz Altay Department of Child Psychiatry, Faculty of Medicine, Trakya University, Edirne, Turkey
  • Emine Ikbal Atli Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
  • Hasan Cem Aykutlu Department of Child Psychiatry, Faculty of Medicine, Trakya University, Edirne, Turkey
  • Damla Eker Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
  • Cisem Mail Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
  • Isik Gorker Department of Child Psychiatry, Faculty of Medicine, Trakya University, Edirne, Turkey

Keywords:

Autism spectrum disorder, syndromic autism, targeted gene analysis

Abstract

Aim: In this study, we aimed to determine the etiology of syndromic autism with analyzing 50 genes with a targeted gene panel. Cases with a pre-diagnosis of genetic syndrome including autism spectrum disorder were analysed in the current study.
Materials and Methods: The targeted gene panel containing fifty genes causing syndromic autism was sequenced using the Illumina NextSeq550 platform. Forty-nine cases with autism spectrum disorder and syndromic clinical findings were analysed after excluding chromosomal abnormalities, microdeletion/duplication syndromes and Fragile X syndrome.
Results: Pathogenic/likely pathogenic variants or variants of unknown clinical significance were detected in 26.5% (13/49) of the cases. One case was diagnosed with KBG Syndrome with a de novo pathogenic variant detected in the ANKRD11 gene. Other two pathogenic/likely pathogenic variants were detected in DHCR7 and AMT genes, two cases were accepted as carriers for these genes. Eleven variants of unknown clinical significance were detected in the VPS13B, SETD2, DHCR7, GRIP1, MED12, ALDH5A1, CREBBP, NSD1 and CHD7 genes.
Conclusion: In this study, the diagnosis rate was 2%, and the rate of pathogenic/likely pathogenic variant detection rate was 6%, after excluding the cases diagnosed with microdeletion/duplication syndromes and Fragile X Syndrome. Our study is the first study in the literature with 50 genes targeted panel investigating the association of autism spectrum disorder and syndromic disorders with high phenotypic diversity.

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Published

2021-12-23

How to Cite

Yalcintepe, S., Gurkan, H., Demir, S., Bozatli, L., Atli, E., Altay, M. A., Atli, E. I., Aykutlu, H. C., Eker, D., Mail, C., & Gorker, I. (2021). Investigation the etiology of syndromic autism with targeted gene analysis. Annals of Medical Research, 28(12), 2174–2178. Retrieved from https://annalsmedres.org/index.php/aomr/article/view/3996

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Section

Original Articles