Clinical and genetic analysis of a patient with FSIP2 compound heterozygous variants causing multiple morphological abnormalities of sperm flagella
CHEN Yao-qi
XU Li-qi
DAI Yi-bo
YAO Liang-yu
YANG Shen-ming
HUANG Lu-yu
YANG Xi
YU Yi
YANG Jing-ming
WU Ke-rong
Abstract：Objective:The aim of this study is to analyze the clinical features and genetic etiology of a patient with multiple morphological abnormalities of the sperm flagella(MMAF)retrospectively.Methods:A severely oligospermic patient from the Re-productive Center of the First Affiliated Hospital of Ningbo University was selected as the study subject.Clinical data and examination results were collected.High-throughput sequencing and bioinformatics were used to analyze the genetic etiology.And Sanger sequen-cing was employed to validate findings in the family.Transmission electron microscopy(TEM)was used to observe the sperm ultra-structure,and immunofluorescence analysis was performed to examine the localization of FSIP2 protein in the sperm.Results:The patient presented with severe oligospermia,and sperm morphology displayed MMAF.TEM revealed fibrous sheath and 9+2 microtubule structural disruptions in the sperm.Sequencing identified compound heterozygous variants in the FSIP2 gene(c.17798C＞T,c.5927T＞G),inherited from the father and mother,respectively.According to the guidelines of the American College of Medical Genetics and Genomics,the variants were classified as pathogenic.The patient's spouse underwent intracytoplasmic single sperm injection,resulting in one embryo,but no clinical pregnancy occurred after embryo transfer.Conclusion:This study reported the mutation of FSIP2 gene c.17798C＞T,c.5927T＞G in a patient with MMAF.These findings expand the mutational spectrum of the FSIP2 gene and provide insights for genetic and assisted reproductive counseling for patients with MMAF.
Keywords：FSIP2asthenospermiamale infertilitymultiple morphological abnormalities of the sperm flagellagenetic vari-ants
Publication Date：2025-05-20
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：8( 395-402 )