Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia
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- 作者：Zhuo Huang ; Jun Ye ; Lianshu Han ; Wenjuan Qiu ; Huiwen Zhang ; Yongguo Yu ; Lili Liang ; Zhuwen Gong ; Xuefan Gu ; gu_xuefan@163.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Congenital lipoid adrenal hyperplasia ; Steroidogenic acute regulatory protein ; STAR gene ; Mutation spectrum
- 刊名：Steroids
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：108
- 期：Complete
- 页码：85-91
- 全文大小：962 K
文摘
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We first report the largest cohort of Chinese patients with CLAH.
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Our patients had classic features at onset and responded well to the treatment.
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Totally eleven STAR gene mutations containing five novel variants were identified.
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All the novel variants of the STAR gene were predicted to be pathogenic in silico.
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We found two possible founder mutations in Chinese population.