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Genomic imbalances of chromosome 15 in patients with autistic features and global developmental delay

Published online by Cambridge University Press:  01 September 2022

M. Budisteanu ,
S. Papuc ,
A. Erbescu ,
L. Albulescu  and
A. Arghir
M. Budisteanu*
Affiliation:
Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Psychiatry Research Laboratory, Bucharest, Romania
S. Papuc
Affiliation:
Victor Babes National Institute of Pathology, Medical Genetics, Bucharest, Romania
A. Erbescu
Affiliation:
Victor Babes National Institute of Pathology, Medical Genetics, Bucharest, Romania
L. Albulescu
Affiliation:
Victor Babes National Institute of Pathology, Medical Genetics, Bucharest, Romania
A. Arghir
Affiliation:
Victor Babes National Institute of Pathology, Medical Genetics, Bucharest, Romania
*
*Corresponding author.

Abstract

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Introduction

Background: Copy-number variants (CNVs) of chromosome 15 have been associated with neurodevelopmental disorders like autism spectrum disorders (ASDs) and developmental delay.

Objectives

We report 6 patients with autistic features and other neurodevelopmental problems carrying CNVs of chromosome 15.

Methods

Materials and methods: The probands belong to a group of patients referred to our clinic and laboratory with autism as main feature. A complete clinical evaluation was performed with focus on neurologic, psychiatric, and psychological evaluation with specific autism tests. Array-based comparative genomic hybridization (array-CGH) was performed using 180K platform (Agilent technology).

Results

six patients investigated by array-CGH had a CNV involving chromosome 15. Four of these patients, previously reported by us (ref 1), had small duplications of 15q13.3 involving CHRNA7 and OTUD7A genes. The other two patients had large deletions of 15q21q22 and 15q24, respectively. A deletion of 15q21.2 - q22.2 was detected in one patient. The deleted region contains 62 genes and has been rarely reported in patients with neurodevelopmental disorders. A deletion of 15q24.1 - q24.2 was detected in the other patient. This region is recurrently deleted in developmentally delayed patients (ref 3).

Conclusions

Our data highlight that chromosome 15 is a hub for neurodevelopmental disorder and illustrates the utility of array-CGH in the investigation of patients with autism, specifically in the context of complex phenotypes. Acknowledgment: The research leading to these results has received funding from the EEA Grant 2014-2021, under the project contract No 6/2019. References: Genes (Basel). 2021 Jul 1;12(7):1025. https://www.omim.org/entry/618060 Clinical Genome Resource. https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46296

Disclosure

No significant relationships.

Keywords

developmental delaychromosome 15genomic imbalancesautism
Type
Abstract
Information
European Psychiatry , Volume 65 , Special Issue S1: Abstracts of the 30th European Congress of Psychiatry , June 2022 , pp. S224
Creative Commons
Creative Common License - CCCreative Common License - BY
This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
Copyright
© The Author(s), 2022. Published by Cambridge University Press on behalf of the European Psychiatric Association
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