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

Research output: Contribution to journalArticle

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
JournalEuropean Journal of Medical Genetics
DOIs
Publication statusAccepted/In press - 01-01-2018

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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.",
author = "Hiroko Boda and Masafumi Miyata and Hidehito Inagaki and Yasuko Shinkai and Takema Kato and Tetsushi Yoshikawa and Hiroki Kurahashi",
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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

PY - 2018/1/1

Y1 - 2018/1/1

N2 - 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.

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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