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378063

Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification

Article

Last updated: 05 Jan 2025

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Abstract

Background: Congenital heart disease (CHD) is the most common disorder among live births with an incidence of 10/1000 newborns. It is also considered a major cause of morbidity and mortality. In most cases, the cause of CHD is multifactorial with a genetic background. Aim of Study: The objective of this work was to improve the diagnostic outcome among children with CHD associated with other somatic anomalies or developmental delay by using Multiplex Ligation Dependent Probe Amplification (MLPA) technique. Patients and Methods: Forty patients with CHD and extra cardiac manifestations were examined using conventional cytogenetic analysis and MLPA Microdeletion and Subtelomere kits. Chromosomal microarray (CMA) was carried out for three patients with normal MLPA results. Results: MLPA analysis showed abnormalities in 5 patients (12.5%) in the form of Williams-Beuren, 22q11.2 microdeletion or DiGeorge (DS), Wolf -Hirschhorn and 2p25.3 microduplication syndromes. CMA showed an interstitial 2.27 Mb deletion of chromosome 2q22 including the entire ZEB2 gene in one patient with characteristic facial features who was accordingly diagnosed as Mowat Wilson syndrome. Conclusion: The present study markedly increased the diagnostic yield of patients with CHD associated with other somatic anomalies and detected two rare patients, one with atypical 2p25.3 microduplication and the other with Mowat Wilson syndrome. The conduction of larger analytical studies using different molecular cytogenomic techniques including CMA on a larger scale is recommended to provide better understandings of gene implication and improve the diagnostic and prevention strategies of CHD.

DOI

10.21608/MXE.2024.377819

Keywords

CHD, chromosomal anomalies, CNVs, developmental delay, MLPA

Authors

First Name

Khaled

Last Name

Refaat

MiddleName

M.

Affiliation

Human Cytogenetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

Email

dr.khaled.refaat@gmail.com

City

Dokki

Orcid

-

First Name

Mona

Last Name

Mekkawy

MiddleName

K

Affiliation

Human Cytogenetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

Email

monamekkawy2005@yahoo.com

City

Cairo

Orcid

-

First Name

Engy

Last Name

Ashaat

MiddleName

A.

Affiliation

Clinical Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

Email

nogy80@hotmail.com

City

-

Orcid

-

First Name

Ola

Last Name

Eid

MiddleName

M.

Affiliation

Human Cytogenetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

Email

olameid@hotmail.com

City

-

Orcid

0000-0002-3898-7117

First Name

Nivine

Last Name

Helmy

MiddleName

A.

Affiliation

Human Cytogenetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

Email

nivinehelmy@hotmail.com

City

-

Orcid

-

Volume

12

Article Issue

2

Related Issue

50197

Issue Date

2023-07-01

Receive Date

2023-10-13

Publish Date

2023-07-01

Page Start

1

Page End

10

Print ISSN

2090-8571

Online ISSN

2090-763X

Link

https://mxe.journals.ekb.eg/article_378063.html

Detail API

https://mxe.journals.ekb.eg/service?article_code=378063

Order

378,063

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

Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification

Details

Type

Article

Created At

29 Dec 2024