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
N1 - Funding Information:
We thank the parents of our patient subject for agreeing to participate in this study. We also thank Yuya Ouchi, Naoko Fujita and Asami Kuno for technical assistance. This study was supported by grants-in-aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan , from the Ministry of Health, Welfare and Labor of Japan , and from the Japan Agency for Medical Research and Development .
Funding Information:
We thank the parents of our patient subject for agreeing to participate in this study. We also thank Yuya Ouchi, Naoko Fujita and Asami Kuno for technical assistance. This study was supported by grants-in-aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan, from the Ministry of Health, Welfare and Labor of Japan, and from the Japan Agency for Medical Research and Development.
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.
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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 -