GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia.
Nobuhiko Koga, Yuko Katoh-Fukui, Sadahiro Fukui et al.
✦ AI-curated · Sources linked
Case in brief
A 2-year-old boy presented with multiple congenital anomalies, including pulmonary valve stenosis, atrial septal defects, hypospadias, bifid scrotum, bilateral inguinal hernia, and congenital diaphragmatic hernia. Genetic testing revealed a de novo 3-bp deletion in the GATA4 gene, leading to a single-amino acid deletion. The patient's endocrine evaluations suggested partial testicular dysgenesis, and the variant was classified as likely pathogenic.
What made this case unusual
This case uniquely combines congenital heart defects, differences of sex development, and congenital diaphragmatic hernia associated with a GATA4 variant, which has not been previously reported.
Diagnostic / clinical pearl
Clinicians should consider GATA4 variants in patients presenting with a combination of congenital heart defects and differences of sex development, as this may indicate a broader spectrum of associated anomalies.
Why it matters
Understanding the phenotypic diversity linked to GATA4 abnormalities can aid in genetic counseling and management of affected patients.