Compound heterozygous variation of PATL2 causes oocyte maturation defect

Authors :: HUO Ming-zhu, ZHANG Yi-le, XU Jia-wei, SHI Hao, LIU Yi-dong, NIU Wen-bin
Source :: Jichu yixue yu linchuang, Vol 42, Iss 1, Pp 51-55 (2022)
Publication Year :: 2022
Publisher :: Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College., 2022.
Abstract: Objective To investigate the genetic etiology of a patient with primary infertility and oocyte maturation defect. Methods Whole exome sequencing (WES) was carried out on patient's DNA to detect potential pathologic variants. The positive sites detected by WES were verified by Sanger sequencing, and the bioinformatics analysis of the mutation was analyzed. Results The patient was found to harbor compound heterozygous variants of the PATL2 in exon 14 and 13 c.1 374A＞G (p.Ile458Met) and c.1 289_1 291delTCC (p.Leu430del), which were respectively inherited from her father and mother. Conclusions The compound heterozygous variation of PATL2 may be the genetic mechanism to explain infertility resulted from the disturbance of oocyte maturation.