A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility  

作　　者：Si-Yi Zhao Lan-Lan Meng Zhao-Li Du Yue-Qiu Tan Wen-Bin He Xiong Wang 

机构地区：[1]The First Clinical College of Guangzhou Medical University,Guangzhou 511436,China [2]National Engineering and Research Center of Human Stem Cells and Institute of Reproductive and Stem Cell Engineering,School of Basic Medical Science,Central South University,Changsha 410008,China [3]Reproductive and Genetic Hospital of CITIC-Xiangya and Clinical Research Center For Reproduction and Genetics in Hunan Province,Changsha 410008,China [4]Yinfeng Gene Technology Co.,Ltd.,Jinan 250000,China [5]Reproductive Medicine Center,Affiliated Yantai Yuhuangding Hospital of Qingdao University,Yantai 264000,China

出　　处：《Asian Journal of Andrology》2023年第5期643-645,共3页亚洲男性学杂志（英文版）

基　　金：supported by grants from the National Key Research and Development Program of China(2022YFC2702604);the National Natural Science Foundation of China(82171608,82201773,and 81971447);the China Postdoctoral Science Foundation(2022M711119);the Scientific Research Foundation of the Health Committee of Hunan Province(B202301039323 and B202301039518).

摘　　要：Male infertility is a major reproductive disorder,which is clinically characterized by highly heterogeneous phenotypes of abnormal sperm count or quality.To date,five male patients with biallelic loss-of-function(LOF)variants of PARN-like ribonuclease domain-containing exonuclease 1(PNLDC1)have been reported to experience infertility with nonobstructive azoospermia.The aim of this study was to identify the genetic cause of male infertility with oligo-astheno-teratozoospermia(OAT)in a patient from a Chinese Han family.Whole-exome and Sanger sequencing analyses identified a homozygous LOF variant(NM_173516.2,c.l42C>T,p.Gln48Ter)in PNLDC1.Hematoxylin and eosin staining revealed that the spermatozoa of the patient with OAT had an irregular head phenotype,including microcephaly,head tapering,and globozoospermia.Consistently,peanut agglutinin staining of the spermatozoa revealed a complete or partial loss of the acrosome.Furthermore,the disomy rate of chromosomes in the patient’s spermatozoa was significantly increased compared with that of a fertile control sample.We reported an LOF variant of the PNLDC1 gene responsible for OAT.

关 键 词：loss-of-function variant male infertility oligo-astheno-teratozoospermia PARN-like ribonuclease domain-containing exonuclease 1 

分 类 号：R73[医药卫生—肿瘤]