Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency
| Autor: | Hiroaki Masuzaki, Akiko Takushi, Misa Honda, Toyofumi Majikina, Tomonobu Hasegawa, Nami Morishima, Akiko Zaha, Michio Shimabukuro, Takeshi Touma, Moritake Higa |
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| Rok vydání: | 2021 |
| Předmět: |
Adrenal gland diseases
0303 health sciences medicine.medical_specialty lcsh:QH426-470 business.industry Combined pituitary hormone deficiency Lipoid congenital adrenal hyperplasia 030305 genetics & heredity lcsh:Life Genetic variants medicine.disease Biochemistry lcsh:Genetics lcsh:QH501-531 03 medical and health sciences Endocrinology Internal medicine Genetics research Data Report Genetics Medicine business Molecular Biology Gene 030304 developmental biology |
| Zdroj: | Human Genome Variation Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021) |
| ISSN: | 2054-345X |
| DOI: | 10.1038/s41439-021-00138-w |
| Popis: | We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported variant of c.634C>T, namely, p.Gln212*. The association with combined pituitary hormone deficiency might be just a coincidence. |
| Databáze: | OpenAIRE |
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