Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

Autor: Moritake Higa, Akiko Zaha, Akiko Takushi, Nami Morishima, Toyofumi Majikina, Takeshi Touma, Michio Shimabukuro, Hiroaki Masuzaki, Misa Honda, Tomonobu Hasegawa
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Druh dokumentu: article
ISSN: 2054-345X
DOI: 10.1038/s41439-021-00138-w
Popis: Abstract 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: Directory of Open Access Journals
Externí odkaz: