Abstract
GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart defect. Congenital hypothyroidism, and hepatobiliary and gut abnormalities are also detectable. Children with congenital heart defects and neonatal diabetes were already described in 1970. GATA6 variants can be due to de novo variants or due to inherited variants. To date, 11 cases due to an inherited variant have been described. Herein we present a novel heterozygous GATA6 variant (c.1291C > T p.[Gln431*]) in a boy with transient neonatal diabetes, diaphragmatic hernia, congenital heart defect and early-onset scoliosis. The same variant was also present in the mother. At the age of 3 years, a random evaluation revealed a hemoglobin A1c (HbA1c) level of 7.8% (62 mmol/mol) without any diabetes-related symptoms. He was started on insulin therapy and HbA1c normalized. A short review of the literature of hereditary cases of the GATA6 variant revealed the variable phenotypic spectrum and showed that patients with a mild phenotype are likely to have children with a more severe phenotype.
Acknowledgments
We thank the family of the patient for taking part in this research project.
Author contributions: OG and ML had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: OG, DK and ML. Acquisition, analysis or interpretation of data: All authors. Drafting of the manuscript: OG. Critical revision of the manuscript for important intellectual content: All authors. Administrative, technical or material support: DK, PJ and ML. Study supervision: ML.
Research funding: There was no funding for this research project.
Employment or leadership: None declared.
Honorarium: None declared.
Disclosure statement: The authors have no conflicts of interest to declare.
Ethical statement: The research was conducted ethically in accordance with the World Medical Association Declaration of Helsinki. The parents of our patient gave their informed consent to publish their case.
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