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.
| 元の言語 | English |
|---|---|
| 記事番号 | 103570 |
| ジャーナル | European Journal of Medical Genetics |
| 巻 | 62 |
| 発行部数 | 11 |
| DOI | |
| 出版物ステータス | Published - 11-2019 |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
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FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency. / Boda, Hiroko; Miyata, Masafumi; Inagaki, Hidehito; Shinkai, Yasuko; Kato, Takema; Yoshikawa, Tetsushi; Kurahashi, Hiroki.
：: European Journal of Medical Genetics, 巻 62, 番号 11, 103570, 11.2019.研究成果: Article
TY - JOUR
T1 - FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency
AU - Boda, Hiroko
AU - Miyata, Masafumi
AU - Inagaki, Hidehito
AU - Shinkai, Yasuko
AU - Kato, Takema
AU - Yoshikawa, Tetsushi
AU - Kurahashi, Hiroki
PY - 2019/11
Y1 - 2019/11
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.
UR - http://www.scopus.com/inward/record.url?scp=85056432411&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85056432411&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2018.11.004
DO - 10.1016/j.ejmg.2018.11.004
M3 - Article
C2 - 30414530
AN - SCOPUS:85056432411
VL - 62
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 11
M1 - 103570
ER -