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Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency
Human Genome Variation ( IF 1.0 ) Pub Date : 2021-02-03 , DOI: 10.1038/s41439-021-00138-w Moritake Higa 1 , Akiko Zaha 1 , Akiko Takushi 1 , Nami Morishima 1 , Toyofumi Majikina 1 , Takeshi Touma 1 , Michio Shimabukuro 1, 2 , Hiroaki Masuzaki 3 , Misa Honda 4 , Tomonobu Hasegawa 4
中文翻译：
典型类脂性先天性肾上腺增生合并垂体激素缺乏症患者的新型 STAR 基因变异
更新日期：2021-02-03
Human Genome Variation ( IF 1.0 ) Pub Date : 2021-02-03 , DOI: 10.1038/s41439-021-00138-w Moritake Higa 1 , Akiko Zaha 1 , Akiko Takushi 1 , Nami Morishima 1 , Toyofumi Majikina 1 , Takeshi Touma 1 , Michio Shimabukuro 1, 2 , Hiroaki Masuzaki 3 , Misa Honda 4 , Tomonobu Hasegawa 4
Affiliation
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.
中文翻译：
典型类脂性先天性肾上腺增生合并垂体激素缺乏症患者的新型 STAR 基因变异
我们报告了首例典型的类脂先天性肾上腺增生和联合垂体激素缺乏症。我们鉴定了STAR基因中的致病变异：c.126_127delCCinsG 的新变体，即 p.Thr44Profs*2 和已报道的 c.634C>T 变体，即 p.Gln212*。与联合垂体激素缺乏的关联可能只是一个巧合。
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