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377574

Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children

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Last updated: 05 Jan 2025

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Abstract

Background: Autism spectrum disorder (ASD) is a common, highly heritable and heterogeneous neurodevelopmental disorder. The etiology of ASD remains to be clarified, yet, it is postulated that both genetic and environmental factors play a pivotal role in the risk of ASD development. The work aimed to investigate the rate of CNVs of the ASD hot spots at SHANK2, 16p11.2, and 15q13.3 as well as to investigate the imprinting defects involving 15q11.2-q13 region, using the MLPA assay and to investigate the association between the SHANK3 SNPs rs9616915 and rs76224556 and ASD in a group of ASD Egyptian patients. Results: De Novo CNVs were detected in 2/40 patients (5%) in SHANK2, 2/40 patients (5%) in the 16p11.2 region, and 2/40 patients (5%) in the 15q13 region. However, no CNVs were detected in the 15q11 region which represents the area for Prader-Willi/Angelman region. Moreover, all patients showed no maternal duplication at the 15q11-q13 region. Moreover, we reported a significant association between SHANK3 SNP rs9616915 and ASD, whereas the rs76224556 genotypes were not significantly associated with ASD. Conclusion: MLPA is a cost-effective and rapid assay to detect CNV imbalances in large groups of patients and should be the first-tier test for genetic screening in ASD. The resulting data fortifies the understanding of the genotype and phenotype correlation of CNVs in patients with autism. However, further studies on larger sample sizes are still needed to evaluate the association between SNPs in the SHANK3 gene and ASD.

DOI

10.21608/mxe.2024.394589

Keywords

autism, SHANK2, MLPA, 16p11.2, maternal duplication

Authors

First Name

Rania

Last Name

Abdel Kader

MiddleName

M.A.

Affiliation

Department of Human Cytogenetics, National Research Centre, Giza, Egypt.

Email

rania_m_heggy@hotmail.com

City

-

Orcid

-

First Name

Ola

Last Name

Eid

MiddleName

M.

Affiliation

Department of Human Cytogenetics, National Research Centre, Giza, Egypt.

Email

olameid@hotmail.com

City

Giza

Orcid

0000-0002-3898-7117

First Name

Amany

Last Name

Abdelrahman

MiddleName

H.

Affiliation

Department of Clinical and Chemical Pathology, National Research Centre, Giza, Egypt.

Email

amanyhosny123@yahoo.com

City

-

Orcid

-

First Name

Marwa

Last Name

Farid

MiddleName

-

Affiliation

Department of Human Cytogenetics, National Research Centre, Giza, Egypt.

Email

marwa.m.farid@gmail.com

City

-

Orcid

-

First Name

Rana

Last Name

Mahrous

MiddleName

-

Affiliation

Department of Human Cytogenetics, National Research Centre, Giza, Egypt.

Email

rana.mahrous.rm@gmail.com

City

-

Orcid

-

First Name

Safa

Last Name

Abd El-Fattah

MiddleName

N.

Affiliation

Department of Clinical and Chemical Pathology, National Research Centre, Giza, Egypt.

Email

safanabil17@gmail.com

City

-

Orcid

-

First Name

Amal

Last Name

Mohamed

MiddleName

M.

Affiliation

Department of Human Cytogenetics, National Research Centre, Giza, Egypt.

Email

amalmahmoud15@yahoo.com

City

-

Orcid

-

First Name

Fatma

Last Name

Hussein

MiddleName

-

Affiliation

Department of Research on Children with Special Needs, National Research Centre, Giza, Egypt.

Email

fatmaelzahraa1980@yahoo.com

City

-

Orcid

-

First Name

Maha

Last Name

Eid

MiddleName

M.

Affiliation

Department of Human Cytogenetics, National Research Centre, Giza, Egypt.

Email

mahaeid67@gmail.com

City

-

Orcid

-

First Name

Nagwa

Last Name

Meguid

MiddleName

A.

Affiliation

Department of Research on Children with Special Needs, National Research Centre, Giza, Egypt.

Email

meguidna@yahoo.com

City

-

Orcid

-

Volume

13

Article Issue

1

Related Issue

51832

Issue Date

2024-01-01

Receive Date

2024-08-18

Publish Date

2024-01-01

Page Start

21

Page End

31

Print ISSN

2090-8571

Online ISSN

2090-763X

Article File

MXE_Volume 13_Issue 1_Pages 21-31.pdf

PDF . 470.4kB

Link

https://mxe.journals.ekb.eg/article_377574.html

Detail API

https://mxe.journals.ekb.eg/service?article_code=377574

Order

4

Type

Original Article

Type Code

2,549

Publication Type

Journal

Publication Title

Middle East Journal of Medical Genetics

Publication Link

https://mxe.journals.ekb.eg/

MainTitle

Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children

Details

Type

Article

Created At

29 Dec 2024