A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency

Guo Xudong; Wang Hanbo; Xiang Yuzhu; Ren Xiangbin; Jiang Shaobo

首页> 外文期刊>Gynecological endocrinology: the official journal of the International Society of Gynecological Endocrinology >A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency

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A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency

机译：17种α-羟化酶/ 17,20-裂解酶缺乏的患者中CYP17A1基因的接头受体位点中的罕见内含内突变

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摘要

Mutations of the CYP17A1 gene could cause complete or partial and combined or isolated 17 alpha-hydroxylase/17,20-lyase deficiency (17OHD), which is characterized by hypertension, hypokalemia, and abnormal development of the genitalia. Most of the mutations are located in the coding sequence, and very few are located in the intronic region. The aim of this study is to investigate the novel intronic CYP17A1 mutation and its possible influence on phenotype. A 30-year-old Chinese female patient (46, XY) was referred to our Urology Department for severe hypertension, hypokalemia and a right adrenal mass. Physical examination revealed a hypertrophic clitoris and blind-ending vagina. Hormone analysis exhibited increased concentrations of ACTH and low levels of cortisol and sexual steroids. Mutation analysis revealed compound heterozygous CYP17A1 mutations, with c.1072C > T (p.Arg358*) in one allele and a novel intronic splicing mutation (c.970-1G > A) in another allele. Bioinformatics software predicted that the novel mutation may activate a cryptic splice site, shifting the reading frame and introducing a premature stop codon. In conclusion, we discovered a novel splicing mutation of the CYP17A1 gene in a Chinese patient with 17OHD. Our study extended the CYP17A1 mutation spectrum and provided valuable information for patient management and genetic counseling.

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来源
《Gynecological endocrinology: the official journal of the International Society of Gynecological Endocrinology》 |2021年第6期|共4页
作者
Guo Xudong; Wang Hanbo; Xiang Yuzhu; Ren Xiangbin; Jiang Shaobo;
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作者单位

Shandong First Med Univ Shandong Prov Hosp Dept Urol Jinan Peoples R China;

Shandong First Med Univ Shandong Prov Hosp Dept Urol Jinan Peoples R China;

Shandong First Med Univ Shandong Prov Hosp Dept Urol Jinan Peoples R China;

Shandong First Med Univ Shandong Prov Hosp Dept Urol Jinan Peoples R China;

Shandong First Med Univ Shandong Prov Hosp Dept Urol Jinan Peoples R China;

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原文格式 PDF
正文语种 eng
中图分类妇产科学;
关键词
CYP17A1; 17 alpha-hydroxylase; 1720-lyase; intronic mutation; splice acceptor site;

机译：CYP17A1;17α-羟化酶;1720-裂解酶;内肠突变;接头受体部位;

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2. Thrombophilia Caused by Beta2-Glycoprotein I Deficiency： In Vitro Study of a Rare Mutation in APOH Gene [J] . Xiao-ping ZHANG, Wei ZENG, Hui LIU, 当代医学科学(英文) . 2018,第002期
3. QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency [J] . De-Yun Lu, Jun Ye, Lian-Shu Han, 世界儿科杂志（英文版） . 2014,第003期
4. A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. [J] . Nuzzo V, Tauchmanova L, Brunetti Pierri R Journal of Endocrinological Investigation: Official Journal of the Italian Society of Endocrinology . 2009,第4期

机译：CYP17A1基因的N端区域中的一个新突变，该患者患有17个α-羟化酶/ 17,20-裂合酶缺乏症。
5. 46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis [J] . Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Case Reports in Endocrinology . 2018,第2期

机译：CYP17A1基因纯合突变引起的17α-羟化酶/ 17,20-酶缺乏导致的性发育的46，XY障碍：晚期诊断的后果
6. 17 alpha-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C > A) mutation in CYP17A1 gene [J] . Keskin Meliksah, Ugurlu Aylin Kilinc, Savas-Erdeve Senay, Journal of pediatric endocrinology & metabolism: JPEM . 2015,第7a8期

机译：CYP17A1基因P.Y27 *（c.81C> A）突变相关的17α-羟化酶/ 17,20-裂合酶缺乏症
7. Tauopathy with intronic 10+14 splice site tau gene mutation mimicking Perry syndrome [C] . Omoto Masatoshi, Suzuki Satoshi, Ikeuchi Takeshi, International Congress of Neuropathology . 2010

机译：具有内含性10 + 14剪接部位Tau基因突变模拟佩里综合征的胁迫
8. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

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9. Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency [O] . Eun Yeong Mo, Ji-young Lee, Su Yeon Kim, 2018

机译：CYP17A1基因复合杂合突变的功能鉴定，导致17α-羟化酶/ 17,20-合酶缺乏症
10. Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient Deficiência combinada de 17α-hidroxilase/17,20 liase devido à mutação p.R96W no gene CYP17 em um paciente brasileiro [O] . Fabíola Costenaro, Ticiana C. Rodrigues, Claudio E. Kater, 2010

机译：一名巴西患者的CYP17基因p.R96W突变导致17α-羟化酶/17.20裂合酶缺乏症

A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency

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