Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility.
- Author:
Yong-Liang SHANG
1
;
Fu-Xi ZHU
2
;
Jie YAN
3
;
Liang CHEN
4
;
Wen-Hao TANG
3
;
Sai XIAO
1
;
Wei-Ke MO
5
;
Zhi-Guo ZHANG
2
;
Xiao-Jin HE
2
;
Jie QIAO
3
;
Yun-Xia CAO
2
;
Wei LI
1
Author Information
- Publication Type:Research Support, Non-U.S. Gov't
- Keywords: DPY19L2; globozoospermia; male infertility; point mutation; whole-exome sequencing
- MeSH: Acrosome; Adult; China; Codon, Nonsense; Female; Humans; Male; Membrane Proteins/genetics*; Point Mutation; Pregnancy; Pregnancy Outcome; Pregnancy Rate; Sequence Deletion; Sperm Head; Sperm Injections, Intracytoplasmic; Teratozoospermia/genetics*; Exome Sequencing
- From: Asian Journal of Andrology 2019;21(2):183-189
- CountryChina
- Language:English
- Abstract: Globozoospermia has been reported to be a rare but severe causation of male infertility, which results from the failure of acrosome biogenesis and sperm head shaping. Variants of dpy-19-like 2 (DPY19L2) are highly related to globozoospermia, but related investigations have been mainly performed in patients from Western countries. Here, we performed a screening of DPY19L2 variants in a cohort of Chinese globozoospermic patients and found that five of nine patients carried DPY19L2 deletions and the other four patients contained novel DPY19L2 point mutations, as revealed by whole-exome sequencing. Patient 3 (P3) contained a heterozygous variant (c.2126+5G>A), P6 contained a homozygous nonsense mutation (c.1720C>T, p.Arg574*), P8 contained compound heterozygous variants (c.1182-1184delATC, p.Leu394_Ser395delinsPhe; c.368A>T, p.His123Arg), and P9 contained a heterozygous variant (c.1182-1184delATCTT, frameshift). We also reported intracytoplasmic sperm injection (ICSI) outcomes in the related patients, finding that ICSI followed by assisted oocyte activation (AOA) with calcium ionophore achieved high rates of live births. In summary, the infertility of these patients results from DPY19L2 dysfunction and can be treated by ICSI together with AOA.
