FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency

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Abstract

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 haploinsufficiency of the FOXA2 gene might be a genetic etiology for this disorder. Phenotypic similarities and differences among these three cases are also discussed.

Original languageEnglish
Article number103570
JournalEuropean Journal of Medical Genetics
Volume62
Issue number11
DOIs
Publication statusPublished - 01-11-2019

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Pituitary Hormones
Missense Mutation
Intestinal Atresia
Imperforate Anus
Haploinsufficiency
Mutation
Inborn Genetic Diseases
Gene Deletion
Genes
Proteins
DNA

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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title = "FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency",
abstract = "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 haploinsufficiency of the FOXA2 gene might be a genetic etiology for this disorder. Phenotypic similarities and differences among these three cases are also discussed.",
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AU - Boda, Hiroko

AU - Miyata, Masafumi

AU - Inagaki, Hidehito

AU - Shinkai, Yasuko

AU - Kato, Takema

AU - Yoshikawa, Tetsushi

AU - Kurahashi, Hiroki

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AB - 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 haploinsufficiency of the FOXA2 gene might be a genetic etiology for this disorder. Phenotypic similarities and differences among these three cases are also discussed.

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