Assisted reproduction outcomes for patients with multiple morphological abnormalities of the sperm flagella caused by CFAP43 or CFAP44 gene mutations
10.3760/cma.j.cn101441-20220711-00291
- VernacularTitle:CFAP43或 CFAP44基因突变致精子鞭毛多发形态异常患者的辅助生殖助孕结局研究
- Author:
Hao GENG
1
;
Dongdong TANG
1
;
Huan WU
1
;
Zongliu DUAN
1
;
Kuokuo LI
1
;
Chuan XU
1
;
Mingrong LYU
1
;
Xiaojin HE
1
Author Information
1. 安徽医科大学第一附属医院妇产科生殖医学中心，生殖健康与遗传安徽省重点实验室，国家卫生健康委配子及生殖道异常研究重点实验室，合肥 230032
- Publication Type:Journal Article
- Keywords:
Sperm injection, intracytoplasmic;
Whole exome sequencing;
CFAP43;
CFAP44;
Multiple morphological abnormalities;
Assisted reproduction outcomes
- From:
Chinese Journal of Reproduction and Contraception
2022;42(10):1014-1020
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical outcomes of patients with multiple morphological abnormalities of the flagella (MMAF) caused by CFAP43 or CFAP44 gene mutations following intracytoplasmic sperm injection (ICSI). Methods:Clinical data and genetic information were retrospectively analyzed for 121 MMAF patients who attended Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University during September 2014 to July 2020. Totally 9 MMAF patients were identified to carry CFAP43 or CFAP44 mutations, 5 of them (P3, P5, P7, P8, and P9) received ICSI treatments, the ICSI outcomes were further analyzed. Results:Sanger sequencing validated 9 MMAF patients harboring CFAP43 or CFAP44 biallelic mutations, our study firstly identified a novel homozygous mutation of CFAP43(c.4132delC: p.Arg1378Glufs*10), novel compound heterozygous mutations of CFAP43 (c.3938G>A: p.Arg1313Gln;c.4342G>A:p.Glu1448Lys) and novel compound heterozygous mutations of CFAP44 (c.1718C>A:p.Pro573His; c.4075G>A: p.Glu1359Lys). The 5 MMAF patients underwent 5 ICSI cycles, 4 healthy offspring were obtained. The rate of fertilization of CFAP43- or CFAP44-mutated MMAF patients following ICSI was 76.47% (39/51), 3 patients' wife got clinical pregnancy, 3 patients got live birth delivery, respectively. No significant differences were found in ICSI outcomes among CFAP43-mutated or CFAP44-mutated MMAF patients, DNAH1-mutated MMAF patients, and severe oligoasthenozoospermia group (all P>0.05) .Conclusion:CFAP43 or CFAP44 mutations are responsible for the malformation of sperm flagella and decrease of sperm motility, and validated as the important genetic causes of MMAF. CFAP43- or CFAP44-mutated MMAF patients could have a favorable treatment outcome following ICSI.
