干旱区生态环境知识资源中心(Arid): A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis

Arid

	A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis
	Wang Xiaobo; Liang Yulong; Zhu Zijue; Zhu Yong; Li Peng; Cao Jiaping; Zhang Qunying; Liu Qiang; Li Zheng
来源期刊	Asian Journal of Andrology
ISSN	1008-682X
出版年	2019
卷号	21 期号:5 页码:522-524
英文摘要	Dear Editor, Sex in mammals is genetically determined and defined at the cellular level by the sex chromosome constitution (XY males and XX females) and at the phenotypic level by the development of gender-specific anatomy, physiology, and behavior.146,XY complete gonadal dysgenesis (46,XY CGD), first reported by Swyer in 1955,2 is a rare congenital condition with completely or partially disordered gonadal development, leading to discordance between the genetic, gonadal, and phenotypic sex. Affected patients have a 46,XY karyotype, a female phenotype, normal female external genitalia, and CGD ("streak gonads") without sperm production and follicular or steroid function.3 Moreover, the streak gonads in individuals with 46,XY CGD have a high propensity toward malignancy, and especially dysgerminoma, which occurs in about 20%-50% of patients.1 Most cases of 46,XY CGD are sporadic, but familial cases have also been reported. It is estimated that mutations in sex-determining region Y (SRY) gene were found in 30% of 46,XY CGD cases, and other cases have unknown genetic origins,4 although mutations in several genes involved in testis differentiation may be causative, such as nuclear receptor subfamily 5 group A member 1 (NR5A1), SRY-related HMG box genes 9 (SOX9), Wilms' tumor-4 (WNT4), dosage-sensitive sex reversal (DAX1), and desert hedgehog (DHH).5 Here, we describe a de novo frameshift mutation leading to a truncated and dysfunctional form of the SRY protein.
类型	Article
语种	英语
开放获取类型	DOAJ Gold, Green Published
收录类别	CSCD
WOS研究方向	General & Internal Medicine
CSCD记录号	CSCD:6565732
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/336167
作者单位	Wang Xiaobo, Department of Andrology, Center for Men's Health, Institute of Urology, Urologic Medical Center, Shanghai General Hospital;;Department of Histoembryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, ;;Shanghai Key Laboratory of Reproductive Medicine, ;;, Shanghai;;Shanghai 200080;;200025.; Li Zheng, Department of Andrology, Center for Men's Health, Institute of Urology, Urologic Medical Center, Shanghai General Hospital;;Department of Histoembryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, ;;Shanghai Key Laboratory of Reproductive Medicine, ;;, Shanghai;;Shanghai 200080;;200025.; Liang Yulong, Department of Gynecology and Obstetrics, Changxing Maternity and Child Health Care Hospital, Huzhou, Zhejiang 313199, China.; Cao Jiaping, Department of Gynecology and Obstetrics, Changxing Maternity and Child Health Care Hospital, Huzhou, Zhejiang 313199, China.; Zhang Qunying, Department of Gynecology and Obstetri...
推荐引用方式 GB/T 7714	Wang Xiaobo,Liang Yulong,Zhu Zijue,et al. A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis[J],2019,21(5):522-524.
APA	Wang Xiaobo.,Liang Yulong.,Zhu Zijue.,Zhu Yong.,Li Peng.,...&Li Zheng.(2019).A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis.Asian Journal of Andrology,21(5),522-524.
MLA	Wang Xiaobo,et al."A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis".Asian Journal of Andrology 21.5(2019):522-524.