FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency
H Boda, M Miyata, H Inagaki, Y Shinkai, T Kato… - European Journal of …, 2019 - Elsevier
We report a patient with congenital complex pituitary hormone deficiency (CPHD) with
intestinal malrotation and anal atresia. We identified a de novo heterozygous mutation, c.
664T> G (p. Cys222Gly), in the FOXA2 gene in this individual. This missense mutation had
the potential to affect the DNA binding properties of the FOXA2 protein based on a protein
structure prediction. Since a CPHD patient with another missense mutation and one other
case with an entire gene deletion have also been reported, we speculated that a …
intestinal malrotation and anal atresia. We identified a de novo heterozygous mutation, c.
664T> G (p. Cys222Gly), in the FOXA2 gene in this individual. This missense mutation had
the potential to affect the DNA binding properties of the FOXA2 protein based on a protein
structure prediction. Since a CPHD patient with another missense mutation and one other
case with an entire gene deletion have also been reported, we speculated that a …