Clinical and genetic analysis of a case of Kartagener syndrome with obstructive azoospermia induced by biallelic variation of CCDC114.
- Author:
Mei-Jiao CAI
1
;
Mei-Jiao XIN
2
;
Yu-Lin WANG
2
Author Information
1. Central Laboratory, Xiamen Maternal and Child Health Care Hospital / Women and Children's Hospital Affiliated to Xiamen University, Xiamen, Fujian 361003, China.
2. Key Laboratory of Fujian Provincial Colleges and Universities for Functional and Clinical Translational Medicine, School of Basic Medicine, Xiamen Medical College, Xiamen, Fujian 361023, China.
- Publication Type:English Abstract
- Keywords:
CCDC114;
male infertility;
Kartagener syndrome;
obstructive azoospermia;
genetic variation
- MeSH:
Adult;
Humans;
Male;
Azoospermia/genetics*;
Kartagener Syndrome/complications*;
Mutation;
Sperm Injections, Intracytoplasmic
- 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 obstructive 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-throughput sequencing and bioinformatics, verified the pathogenic variants of CCDC114 by Sanger sequencing of the family members, and determined 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 sequencing, which were inherited from father and mother, respectively. According to the American College of Medical Genetics and Genomics (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 outcome of ICSI.
