Publication: A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature
A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature
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Gaisl, O., Konrad, D., Joset, P., & Lang-Muritano, M. (2019). A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. Journal of Pediatric Endocrinology & Metabolism, 32(9), 1027–1030. https://doi.org/10.1515/jpem-2019-0057
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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*]
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- Gaisl, Odile
- Joset, Pascal
- Lang-Muritano, Mariarosaria
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Gaisl, O., Konrad, D., Joset, P., & Lang-Muritano, M. (2019). A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. Journal of Pediatric Endocrinology & Metabolism, 32(9), 1027–1030. https://doi.org/10.1515/jpem-2019-0057
