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. 2023 Feb;14(1):1-10.
doi: 10.1159/000525247. Epub 2022 Jul 4.

22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders

Maiara A Floriani  1 , Andressa S Santos  2 , Bruna L Diniz  1 , Andressa B Glaeser  1 , Paulo R Gazzola Zen  3   4 , Rafael F Machado Rosa  3   4
Affiliations

22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders

Maiara A Floriani et al. Mol Syndromol. 2023 Feb.

Abstract

Introduction: Congenital heart disease (CHD) is the most common type of congenital defect reported to be one of the leading causes of mortality in the first year of life. Microdeletion and microduplication syndromes (MMS) are associated with cardiac malformations. Understanding which genetic factors are involved in these conditions directly impacts treatment decisions. We aimed to identify the occurrence of genetic alterations and their association with MMS in CHD pediatric patients evaluated in a reference service of Southern Brazil.

Methods: Participants were recruited during 2010 in the intensive care unit of a pediatric hospital. MMs and regions of chromosome 22 were screened by SALSA MLPA Probemix P245 Microdeletion Syndromes-1A kit for detection of copy number variations (CNVs).

Results: MMS were detected in 11 from 207 patients (5.3%). Heterozygous deletion in the 22q11.2 chromosome region was the most prevalent CNV (5 from 11 patients). Also, atypical RTDR1 deletion and 22q11.2 duplication were detected. MLPA was able to reveal microdeletions in SNRPN and NF1 genes in patients with a normal karyotype and FISH.

Conclusion: Our study reports the prevalence and variability of genomic alterations associated with MMS in CHD pediatric patients. The results by MLPA are of great help in planning and specialized care.

Keywords: 22q11.2 deletion syndrome; Congenital heart disease; DNA Copy number variation; Multiplex ligation-dependent probe amplification.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1
Fig. 1
Flowchart of MMS diagnostic by FISH and MLPA in CHD patients. *Published data by Rosa et al. [2008]. **Published data by Floriani et al. [2021].
Fig. 2
Fig. 2
Multiplex ligation dependent probe amplification (MLPA) P245 Microdeletion Syndromes-1A analysis of patients non detected/diagnosed by FISH. a Patient 199 was positive for duplication of CLDN5, GP1BB, SNAP29 (22q11DupS). b Patient P16 was positive for deletion of CLDN5, GP1BB, SNAP29 (22q11DS). c Patient 186 was positive for deletion of RTDR1 (distal 22q11.2DS). d Patient 157 was positive for deletion of SNRPN (Prader-Willi/Angelman syndrome). e Patient 203 was positive for deletion of NF1 (NF1 microdeletion syndrome).
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