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2023 ACMG Annual Clinical Genetics Meeting Digital ...
De Novo
GATA4
deletion in a 46,XX Boy wit ...
De Novo
GATA4
deletion in a 46,XX Boy with Hypospadias and Pulmonic Valve Stenosis
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Pdf Summary
This document describes a case study of an infant with atypical male genitalia, pulmonic valve stenosis, and a prenatal diagnosis of 46,XX chromosome complement. The patient underwent further evaluation and was found to have a GATA4 deletion associated with 46,XX differences in sex development (DSD). The GATA4 gene has been implicated in cardiac and sexual development. Previous reports have linked pulmonic valve stenosis and GATA4 gene variants, including deletions. The patient also had hypospadias and a range of other cardiac abnormalities. The patient underwent various surgeries, including valvuloplasty for the pulmonic valve stenosis and hypospadias repair. Genetic testing confirmed the GATA4 deletion and ruled out other possible causes. GATA4 is a zinc finger transcription factor that plays a role in the development of the heart and sexual organs. Previous studies have identified GATA4 variants in individuals with congenital heart defects, testicular anomalies, and XY DSD. However, atypical sex development in individuals with GATA4 deletions in the 8p23.1 region, including XX individuals, has not been reported. The study suggests the potential importance of the GATA4 gene in the genital differentiation of 46,XX patients and calls for further research to understand its function in these individuals.
Asset Subtitle
Presenting Author - Eyby Leon, MD; Co-Author - Veronica Gomez-Lobo, MD; Co-Author - Kim Shimy, MD; Co-Author - Maureen Monaghan, PhD; Co-Author - Eric J. Vilain, MD, PhD; Co-Author - Daniel Casella, MD; Co-Author - Emmanuele Delot, PhD;
Meta Tag
array CGH
Cardiac/circulatory disorders
Congenital Anomaly
Delineation of Diseases
Etiology
Genitourinary malformations
Identification of Disease Genes
Phenotype
Prenatal Diagnosis
Co-Author
Veronica Gomez-Lobo, MD
Co-Author
Kim Shimy, MD
Co-Author
Maureen Monaghan, PhD
Co-Author
Eric J. Vilain, MD, PhD
Co-Author
Daniel Casella, MD
Co-Author
Emmanuele Delot, PhD
Presenting Author
Eyby Leon, MD
Keywords
infant
atypical male genitalia
pulmonic valve stenosis
46,XX chromosome complement
GATA4 deletion
sex development
hypospadias
cardiac abnormalities
valvuloplasty
genetic testing
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