单位：[1]Department of Endocrinology, China - Japan Friendship Hospital, Beijing, China[2]Department of Endocrinology, Peking Union Medical College Hospital, Beijing, China
Objective The spectrum of molecular defects in Chinese patients with 21-hydroxylase deficiency (21-OHD), and genotype-phenotype relationships are unknown. Methods We screened eight patients with non-classical (NC) 21-OHD and 35 with classical 21-OHD, and detected nine known mutations. Results The most frequent mutation among the 43 21-OHD cases was p.Ile172Asn (allele frequency, 36.0%), followed by c.290-13A/C>G (20.9%), Del (8.6%), p.Pro30Leu (7.0%), p.Gln318Ter (7.0%), p.Val281Leu (4.7%), p.Arg356Trp (2.3%), p.[Ile236Asn; Val237Glu; Met239Lys] (2.3%), and E38bp (1.2%). The frequency spectrum of CYP21A2 mutations in the Chinese population was similar to that in the Japanese population, except that p.Val281Leu was identified in Chinese NC21-OHD patients at a frequency of 25.0%, whereas it was absent in Japanese patients. We found that genotype could predict phenotype in 88.3% of patients. Conclusion Some characteristics appear to be unique to the Chinese population, but genotype was strongly predictive of phenotype.
语种：
外文
被引次数：
WOS：
中科院(CAS)分区：
出版当年[2016]版：
大类|4 区医学
小类|4 区医学：研究与实验4 区药学
最新[2025]版：
大类|4 区医学
小类|4 区医学：研究与实验4 区药学
JCR分区：
出版当年[2015]版：
Q3MEDICINE, RESEARCH & EXPERIMENTALQ4PHARMACOLOGY & PHARMACY
最新[2023]版：
Q4MEDICINE, RESEARCH & EXPERIMENTALQ4PHARMACOLOGY & PHARMACY
第一作者单位：[1]Department of Endocrinology, China - Japan Friendship Hospital, Beijing, China[*1]Department of Endocrinology, China Japan Friendship Hospital, No.2 Yinghua Eastern Street, Beijing, China
通讯作者：
通讯机构：[1]Department of Endocrinology, China - Japan Friendship Hospital, Beijing, China[2]Department of Endocrinology, Peking Union Medical College Hospital, Beijing, China[*1]Department of Endocrinology, China Japan Friendship Hospital, No.2 Yinghua Eastern Street, Beijing, China[*2]Department of Endocrinology, PUMC Hospital, No.1 Shuaifuyuan, Beijing, China
推荐引用方式(GB/T 7714)：
Zhang Bo,Lu Lin,Lu Zhaolin.Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations[J].JOURNAL of INTERNATIONAL MEDICAL RESEARCH.2017,45(2):481-492.doi:10.1177/0300060516685204.
APA：
Zhang, Bo,Lu, Lin&Lu, Zhaolin.(2017).Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations.JOURNAL of INTERNATIONAL MEDICAL RESEARCH,45,(2)
MLA：
Zhang, Bo,et al."Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations".JOURNAL of INTERNATIONAL MEDICAL RESEARCH 45..2(2017):481-492
