典型文献
A homozygous protein-truncating mutation in
ACTL7A causes male infertility characterized by fertilization failure
文献摘要：
Objective::This study aimed to screen for novel mutations in
ACTL7A and expand the spectrum of known mutations responsible for recurrent fertilization failure.
Methods::Whole-exome sequencing was performed on samples from couples who experienced recurrent assisted reproductive technology failure and visited the General Hospital of Ningxia Medical University. Western blotting and quantitative Real-time PCR were used to investigate the effects of the mutation on HEK293T cells.Results::Samples from 12 couples with total fertilization failure or poor fertilization (fertilization rate <20%) were subjected to whole-exome sequencing, and a novel homozygous protein-truncating mutation (c. 1101dupC, p. S368Qfs*5) in
ACTL7A was identified in a patient with recurrent poor fertilization. The mutant resulted in a truncated protein as well as decreased protein expression level in HEK293T cells.
Conclusions::Our findings expand the mutational and phenotypic spectrum of
ACTL7A, thus providing a potential diagnostic marker for fertilization failure due to male factors.
文献关键词：
ACTL7A;Fertilization failure;Male infertility;Mutation
中图分类号：
作者姓名：
Chen Yao;Chen Biao-Bang;Sang Qing;Wang Lei;Zhao Jun-Li;Sun Xiao-Xi
作者机构：
Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China;NHC Key Lab of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), Fudan University, Shanghai 200032, China;Institute of Pediatrics, Children's Hospital of Fudan University, the Institutes of Biomedical Sciences, and the State Key Laboratory of Genetic Engineering, Fudan University, Shanghai 200032, China;Center for Reproductive Medicine, General Hospital of Ningxia Medical University, Yinchuan 750004, China
文献出处：
引用格式：
[1]Chen Yao;Chen Biao-Bang;Sang Qing;Wang Lei;Zhao Jun-Li;Sun Xiao-Xi-.A homozygous protein-truncating mutation in
ACTL7A causes male infertility characterized by fertilization failure
)[J].生殖与发育医学（英文）,2022(03):169-174
A类：
ACTL7A,failure
,1101dupC,S368Qfs
B类：
homozygous,protein,truncating,causes,male,infertility,characterized,by,fertilization,Objective,This,study,aimed,screen,novel,mutations,expand,spectrum,known,responsible,recurrent,Methods,Whole,exome,sequencing,was,performed,samples,from,couples,experienced,assisted,reproductive,technology,visited,General,Hospital,Ningxia,Medical,University,blotting,quantitative,Real,were,used,investigate,effects,HEK293T,cells,Results,Samples,total,poor,rate,subjected,whole,identified,patient,mutant,resulted,truncated,well,decreased,expression,level,Conclusions,Our,findings,mutational,phenotypic,thus,providing,potential,diagnostic,marker,due,factors,Fertilization,Male,Mutation
AB值：
0.530735
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