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

研究成果: Article査読

2 被引用数 (Scopus)

抄録

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.

本文言語English
論文番号103570
ジャーナルEuropean Journal of Medical Genetics
62
11
DOI
出版ステータスPublished - 11-2019

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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