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

Authors
  • Boda, Hiroko1
  • Miyata, Masafumi1
  • Inagaki, Hidehito2
  • Shinkai, Yasuko3
  • Kato, Takema2
  • Yoshikawa, Tetsushi1
  • Kurahashi, Hiroki4
  • 1 Department of Pediatrics, Fujita Health University School of Medicine, Japan. , (Japan)
  • 2 Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Japan. , (Japan)
  • 3 Genome and Transcriptome Analysis Center, Fujita Health University, Japan. , (Japan)
  • 4 Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Japan. Electronic address: [email protected] , (Japan)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 01, 2019
Volume
62
Issue
11
Pages
103570–103570
Identifiers
DOI: 10.1016/j.ejmg.2018.11.004
PMID: 30414530
Source
Medline
Keywords
Language
English
License
Unknown

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. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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