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The psychiatric phenotype of 15q11.2-q13.3 duplications

Published online by Cambridge University Press:  13 August 2021

M. Budisteanu*
Affiliation:
Medical Genetics, University Titu Maiorescu, Bucharest, Romania
S. Papuc
Affiliation:
Genetics Laboratory, ‘Victor Babes’ National Institute of Pathology, Bucharest, Romania
A. Erbescu
Affiliation:
Genetics Laboratory, ‘Victor Babes’ National Institute of Pathology, Bucharest, Romania
E. Andrei
Affiliation:
Department Of Child Psychiatry, ‘Prof. Dr. Alexandru Obregia’ Clinical Hospital of Psychiatry, Bucharest, Romania
I. Streata
Affiliation:
Medical Genetics, 4. University of Medicine and Pharmacy, Craiova, Romania
M. Cucu
Affiliation:
Medical Genetics, 4. University of Medicine and Pharmacy, Craiova, Romania
C. Iliescu
Affiliation:
Psychaitry Research Laboratory, Obregia Clinical Hospital of Psychiatry, Bucharest, Romania
C. Anghelescu
Affiliation:
Psychaitry Research Laboratory, Obregia Clinical Hospital of Psychiatry, Bucharest, Romania
D. Ioana
Affiliation:
Department Of Child Psychiatry, ‘Prof. Dr. Alexandru Obregia’ Clinical Hospital of Psychiatry, Bucharest, Romania
M. Ioana
Affiliation:
Medical Genetics, 4. University of Medicine and Pharmacy, Craiova, Romania
F. Rad
Affiliation:
Child And Adolescent Psychiatry, “Alexandru Obregia” Clinical Psychiatry Hospital, Bucharest, Romania
A. Arghir
Affiliation:
Genetics Laboratory, ‘Victor Babes’ National Institute of Pathology, Bucharest, Romania
*
*Corresponding author.

Abstract

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Introduction

15q11.2-q13.3 region is prone to genomic rearrangements leading to both deletions and duplications. A wide spectrum of neuropsychiatric conditions, such as developmental delay/intellectual disability (DD/ID), autism, attention-deficit hyperactivity disorder, schizophrenia, epilepsy was reported in association with genomic imbalances of this region.

Objectives

In this paper we report on 9 children carrying 15q11.2-q13.3 duplications.

Methods

Seven boys and two girls, aged 15 months to 15 years, were included in the study. Genomic investigations were carried out by array-based comparative genomic hybridization (Agilent Technologies). In all patients the psychomotor development, dysmorphic features, neuroimaging and EEG anomalies were assessed. Psychologic and psychiatric evaluation was performed with specific tests.

Results

The size of the duplications ranged from 9.65 Mb to 0.38 Mb. All patients presented speech delay. Autistic behavior and muscular hypotonia were detected in 8 out of 9 patients, DD/ID in 6. Two children presented epileptic seizures, in addition 4 other children had EEG anomalies. Facial dysmorphic features were observed in 5 patients. Neuroimaging studies showed anomalies in 4 children. The smallest region of overlap in our patient group harbors CHRNA7 gene, a candidate for the behavioral abnormalities.

Conclusions

15q duplications encompassing CHRNA7 gene were associated with different neuropsychiatric features in our patients. Our results further support the association of 15q duplications with neuropsychiatric phenotypes, with clinical heterogeneity and variable severity, which is yet to be explained. Acknowledgment: The research leading to these results has received funding from the EEA RO NO Grant 2014-2021, the project contract No 6/2019.

Disclosure

No significant relationships.

Type
Abstract
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), 2021. Published by Cambridge University Press on behalf of the European Psychiatric Association
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