Clinical and genetic analysis of a case of Kartagener syndrome with obstructive azoospermia induced by biallelic variation of CCDC114
10.13263/j.cnki.nja.2025.02.002
- VernacularTitle:CCDC114双等位基因变异所致Kartagener综合征伴梗阻性无精子症1例患者的临床及遗传学分析
- Author:
Mei-jiao CAI
1
;
Mei-jiao XIN
;
Yu-lin WANG
Author Information
1. 厦门大学附属妇女儿童医院/厦门市妇幼保健院中心实验室,福建厦门 361003
- Publication Type:Journal Article
- Keywords:
CCDC114;
male infertility;
Kartagener syndrome;
obstructive azoospermia;
genetic variation
- From:
National Journal of Andrology
2025;31(2):108-114
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical features and genetic etiology of a case of Kartagener syndrome with obstruc-tive azoospermia(KS-OAS).Methods:We collected the clinical data and results of examinations of a male infertility patient treated in the Women and Children's Hospital Affiliated to Xiamen University.We analyzed the genetic etiology of the patient by high-through-put sequencing and bioinformatics,verified the pathogenic variants of CCDC1 14 by Sanger sequencing of the family members,and de-termined the protein expression of CCDC114 in normal subjects by immunohistochemistry and immunofluorescence staining.Results:The patient was confirmed with KS-OAS,and found with biallelic variation of CCDC114(c.71-2A＞C,c.816_817insGCAG)by se-quencing,which were inherited from father and mother,respectively.According to the American College of Medical Genetics and Ge-nomics(ACMG)guidelines,the variants were pathogenic.Two offspring were obtained by intracytoplasmic sperm injection(ICSI).Conclusion:The above findings have broadened the variation spectrum of the CCDC114,and provided some new ideas for genetic and assisted reproduction counseling for patients with Kartagener syndrome.The variation of CCDC114 does not affect the pregnancy out-come of ICSI.
