Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility / 亚洲男科学杂志(英文版)
Asian Journal of Andrology
; (6): 183-189, 2019.
Article
Dans En
| WPRIM
| ID: wpr-1009662
Responsable en Bibliothèque :
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Tête du spermatozoïde
/
Acrosome
/
Issue de la grossesse
/
Chine
/
Délétion de séquence
/
Mutation ponctuelle
/
Codon non-sens
/
Taux de grossesse
/
Injections intracytoplasmiques de spermatozoïdes
/
Tératozoospermie
Limites du sujet:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Pays comme sujet:
Asia
langue:
En
Texte intégral:
Asian Journal of Andrology
Année:
2019
Type:
Article