A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature
-
Odile Gaisl
,
Daniel Konrad
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.
References
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- Frontmatter
- Original Articles
- Association of the 3′UTR polymorphism (rs11665896) in the FGF21 gene with metabolic status and nutrient intake in children with obesity
- Future glycemic control of children diagnosed with type 1 diabetes mellitus at toddler and preschool/school age
- Children with type 1 diabetes of early age at onset – immune and metabolic phenotypes
- Determination of cerebral edema with serial measurement of optic nerve sheath diameter during treatment in children with diabetic ketoacidosis: a longitudinal study
- Association between inflammation, oxidative stress, vitamin D, copper and zinc with pre-obesity and obesity in school children from the city of Podgorica, Montenegro
- Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1
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- Primary ovarian insufficiency in an adolescent population: clinical phenotype and diagnostic approach
- Novel combined insulin-like 3 variations of a single nucleotide in cryptorchidism
- Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea
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- Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation
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