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Updated: Jun 22, 2025

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在26名17α-基酶缺乏的中国患者中,CYP17A1致病变体通过针对性的长读序列测序来发现17α-基酶缺乏

Yaqing Cao1, Zhiyuan Zhao1, Lin Lu1

  • 1NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

The Journal of clinical endocrinology and metabolism
|June 27, 2024
PubMed
概括

针对性长读测序在26名17α-氧酶/17,20-酶缺乏症 (17-OHD) 的患者中确定了20种致病性CYP17A1变异. 描述了五种新的致病变体,扩大了这种罕见的先天性上腺增生亚型的已知谱.

关键词:
17α-基酶/17,20-酶缺乏症出生性上腺增生症.遗传性高性特异性低性特异性迷你基因拼接试验第三代定向的长读序列排序.

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