11.05.2022 | Genetics
Patient with multiple morphological abnormalities of sperm flagella caused by a novel ARMC2 mutation has a favorable pregnancy outcome from intracytoplasmic sperm injection
verfasst von:
Jiaxiong Wang, Xiaoran Liu, Ce Zhang, Yongle Xu, Weizhuo Wang, Hong Li, Shenmin Yang, Jing Zhao
Erschienen in:
Journal of Assisted Reproduction and Genetics
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Ausgabe 7/2022
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Abstract
Purpose
To investigate the potential genetic cause in a primary infertility patient with multiple morphological abnormalities of sperm flagella (MMAF).
Methods
The patient’s sperm was observed by light and electron microscopy. Whole-exome sequencing (WES) was carried out to identify candidate genes. Then, the mutation found by WES was verified by Sanger sequencing. The proteins interacting with ARMC2 were revealed by co-immunoprecipitation (co-IP) and mass spectrometry. Intracytoplasmic sperm injection (ICSI) was carried out to achieve successful pregnancy.
Results
Typical MMAF phenotype (absent, short, coiled, bent irregular flagella) was shown in the patient’s sperm. A novel homozygous mutation in ARMC2 (c.1264C > T) was identified. The proteins interacting with ARMC2 we found were CEP78, PGAM5, RHOA, FXR1, and SKIV2L2. The ICSI therapy was successful, and boy-girl twins were given birth.
Conclusion
We found a novel mutation in ARMC2 which led to MMAF and male infertility. This is the first report of ICSI outcome of patient harboring ARMC2 mutation. The interacting proteins indicated that ARMC2 might be involved in multiple processes of spermatogenesis.