Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection
作者机构：Center for Reproductive MedicineWomen and Children's Hospital of Chongqing Medical UniversityChongqing 400010China Chongqing Health Center for Women and ChildrenChongqing 400010China Chongqing Key Laboratory of Human Embryo EngineeringChongqing 400010China
出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志(英文版))
年 卷 期：2023年第25卷第5期
页 面：564-571页
核心收录：
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：the Natural Science Foundation of Chongqing(CSTC2021JCYJ-MSXMX0722) Chongqing Health Center for Women and Children(2020YJMS01)
主 题：asthenoteratozoospermia CFAP43 intracytoplasmic sperm injection MMAF
摘 要：As a specific type of asthenoteratozoospermia,multiple morphological abnormalities of the sperm flagella(MMAF)is characterized by composite abnormalities,including absent,short,coiled,angulation,and irregular-caliber *** in cilia-and flagella-associated protein 43(CFAP43)are one of the main causative factors of MMAF established to *** identify whether there are other CFAP43 mutations related to MMAF and to determine the clinical outcomes of assisted reproductive technology for patients with MMAF harboring different mutations,we recruited and screened 30 MMAF-affected Chinese men using a 22-gene next-generation sequencing *** systematic analysis,seven mutations in CFAP43,including five novel mutations and two previously reported mutations,were identified from four families and related to MMAF in an autosomal recessive *** staining,immunofluorescence,and electronic microscopy further clarified the semen characteristics a nd abnormal sperm morphologies,including disorganized axonemal and peri-axonemal structures,of the CFAP43-deficient *** female partners of two patients were pregnant after undergoing assisted reproductive technology through intracytoplasmic sperm injection,and one of them successfully gave birth to a healthy *** study significantly expands the mutant spectrum of CFAP43,and together with the available information regarding male infertility and MMAF,provides new information for the genetic diagnosis and counseling of MMAF in the future.
维普期刊数据库