干旱区生态环境知识资源中心(Arid): Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility

Arid

DOI	10.1007/s10815-021-02140-1
	Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility
	Mehta, Poonam; Singh, Priyamvada; Gupta, Nalini J.; Sankhwar, Satya Narayan; Chakravarty, Baidyanath; Thangaraj, Kumarasamy; Rajender, Singh
通讯作者	Rajender, S (corresponding author), Cent Drug Res Inst, Div Endocrinol, Lucknow, Uttar Pradesh, India. ; Rajender, S (corresponding author), Acad Sci & Ind Res AcSIR, Ghaziabad, India.
来源期刊	JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
ISSN	1058-0468
EISSN	1573-7330
出版年	2021
英文摘要	Purpose To identify the contribution of mutations in the Desert Hedgehog (DHH) gene to the disorders of sexual differentiation (DSD) and male infertility. Methods The study included a total 430 subjects, including 47 gonadal dysgenesis cases, 6 patients with undescended testis and infertility characterized by azoospermia, 125 infertile male patients characterized by oligoasthenozoospermia, 24 patients with oligoasthenoteratozoospermia, and 200 ethnically matched normozoospermic fertile men who had fathered a child in the last two years. Sequencing of the complete coding region of the DHH gene was undertaken to find its contribution to the DSD and male infertility. Results We observed four novel mutations in the DHH gene in the cases with different reproductive anomalies. A synonymous substitution, c. 543C>T (p.His181His) was observed in 6.6% oligoasthenozoospermic infertile males and 1.5% normozoospermic fertile control samples (RR = 4.4077, 95%CI 1.19-16.29). Another synonymous substitution, c.990G>A (p.Ala330Ala) was observed in an infertile patient with unilateral undescended testis (case #12). Insertion of G at c.1156insG (p.Arg385fs) was observed in a case with bilateral undescended testis and azoospermia (case #23). In gonadal dysgenesis category, two mutations, insertion of G at c.1156insG (p.Arg385fs) and c.997A>G (p.Thr333Ala) substitution were observed in one case (case #34). These mutations were completely absent in control samples. Conclusion Mutations in the DHH gene impact reproduction with mild mutations affecting fertility, and severe or multiple mutations resulting in gonadal dysgenesis.
英文关键词	DHH gene Gonadal dysgenesis Male infertility Cryptorchidism
类型	Article ; Early Access
语种	英语
收录类别	SCI-E
WOS记录号	WOS:000628093100001
WOS类目	Genetics & Heredity ; Obstetrics & Gynecology ; Reproductive Biology
WOS研究方向	Genetics & Heredity ; Obstetrics & Gynecology ; Reproductive Biology
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/352313
作者单位	[Mehta, Poonam; Rajender, Singh] Cent Drug Res Inst, Div Endocrinol, Lucknow, Uttar Pradesh, India; [Mehta, Poonam; Thangaraj, Kumarasamy; Rajender, Singh] Acad Sci & Ind Res AcSIR, Ghaziabad, India; [Singh, Priyamvada; Thangaraj, Kumarasamy] Ctr Cellular & Mol Biol, Hyderabad, India; [Gupta, Nalini J.; Chakravarty, Baidyanath] Inst Reprod Med, Kolkata, India; [Sankhwar, Satya Narayan] King Georges Med Univ, Lucknow, Uttar Pradesh, India; [Thangaraj, Kumarasamy] Ctr DNA Fingerprinting & Diagnost CDFD, Hyderabad, India
推荐引用方式 GB/T 7714	Mehta, Poonam,Singh, Priyamvada,Gupta, Nalini J.,et al. Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility[J],2021.
APA	Mehta, Poonam.,Singh, Priyamvada.,Gupta, Nalini J..,Sankhwar, Satya Narayan.,Chakravarty, Baidyanath.,...&Rajender, Singh.(2021).Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.JOURNAL OF ASSISTED REPRODUCTION AND GENETICS.
MLA	Mehta, Poonam,et al."Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility".JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2021).