Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.
Prenat Diagn
; 42(13): 1627-1635, 2022 12.
Article
em En
| MEDLINE
| ID: mdl-36403094
ABSTRACT
OBJECTIVES:
The congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and lung hypoplasia, is a common and severe birth defect that affects around 1 in 4000 live births. However, the etiology of most cases of CDH remains unclear. The aim of this study was to perform a retrospective analysis of copy number variations (CNVs) using a high-resolution array comparative genomic hybridization (array-CGH) in a cohort of fetuses and newborns with CDH.METHODS:
Forty seven fetuses and newborns with either isolated or syndromic CDH were analyzed by oligonucleotide-based array-CGH Agilent 180K technique.RESULTS:
A mean of 10.2 CNVs was detected by proband with a total number of 480 CNVs identified based on five categories benign, likely benign, of uncertain signification, likely pathogenic, and pathogenic. Diagnostic performance was estimated at 19.15% (i.e., likely pathogenic and pathogenic CNVs) for both CDH types. We identified 11 potential candidate genes COL25A1, DSEL, EYA1, FLNA, MECOM, NRXN1, RARB, SPATA13, TJP2, XIRP2, and ZFPM2.CONCLUSION:
We suggest that COL25A1, DSEL, EYA1, FLNA, MECOM, NRXN1, RARB, SPATA13, TJP2, XIRP2, and ZFPM2 genes may be related to CDH occurrence. Thus, this study provides a possibility for new methods of a positive diagnosis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Hérnias Diafragmáticas Congênitas
Limite:
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article