Clinical and genetic analysis of a patient with FSIP2 compound heterozygous variants causing multiple morphological abnormalities of sperm flagella.
- Author:
Yao-Qi CHEN
1
;
Li-Qi XU
2
;
Yi-Bo DAI
3
;
Liang-Yu YAO
4
;
Shen-Ming YANG
5
;
Lu-Yu HUANG
6
;
Xi YANG
7
;
Yi YU
3
;
Jing-Ming YANG
7
;
Ke-Rong WU
1
Author Information
1. Ningbo Hospital of Zhejiang University, Zhejiang University School of Medicine, Ningbo, Zhejiang 315010, China.
2. Reproductive Medicine Center, 906 Hospital of Joint Logistics Support Force, Ningbo, Zhejiang 315040, China.
3. Center for Reproductive Medicine, the First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang 315010, China.
4. Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.
5. Center for Reproductive Medicine, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu 215002, China.
6. Graduate School of Heilongjiang University of Traditional Chinese Medicine, Harbin, Heilongjiang 150040, China.
7. Shanghai Weihangsi Biomedical Technology CO.,LTD, Shanghai 201318, China.
- Publication Type:English Abstract
- Keywords:
FSIP2;
asthenospermia;
male infertility;
multiple morphological abnormalities of the sperm flagella;
genetic variants
- MeSH:
Humans;
Male;
Sperm Tail/pathology*;
Heterozygote;
Oligospermia/genetics*;
Spermatozoa;
Mutation;
Infertility, Male/genetics*;
Adult;
Pedigree;
Retrospective Studies;
Sperm Injections, Intracytoplasmic
- From:
National Journal of Andrology
2025;31(5):395-402
- CountryChina
- Language:Chinese
-
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 Reproductive 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 sequencing was employed to validate findings in the family. Transmission electron microscopy (TEM) was used to observe the sperm ultrastructure, 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.
