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HRA004511
   HRA004511.xlsx
Title:
A novel mutation in CFAP69 gene cause asthenoteratozoospermia with good prognosis of fertility following intracytoplasmic sperm injection
Release date:
2024-11-04
Description:
Multiple morphological abnormalities of the sperm flagella (MMAF), involving absent, short, bent, coiled, and irregular flagella, is a severe form of sperm defect causing male infertility. Previous studies identified the mutations in CFAP69 gene as a MMAF-associated factor, but few cases have been reported. To further investigate the pathogenic mechanism and characteristics of CFAP69-induced MMAF, we recruited a total of 30 MMAF patients and identified a frameshift mutation in CFAP69 after genetic analysis. Ultrastructural and immunostaining analyses of spermatozoa from the proband showed highly aberrant sperm morphology, such as axonemal disassembly and absence of the central pair complex. The CFAP69-mutant male successfully got his progeny after undergoing assisted reproductive technology (ART) with intracytoplasmic sperm injection (ICSI).
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA011671
Study type:
Disease Study
Disease name:
male infertility
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
HDAC001015
DAC name:
RGI_Chongqing
Contact person:
Huang Guoning
Email:
gnhuang217@sina.com
Description:
Reproductive and Genetic Institute, Chongqing Health Center for Women and Children
Individuals & samples
Files
Request Data
Submitter:   Huang Guoning / gnhuang217@sina.com
Organization:   Chongqing Health Center for Women and Children
Submission date:   2022-11-21
Requests:   -