A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review
作者全名："Tang, Xiangrong; Ma, Jing; Wang, Xinglin; Long, Shunhua; Wan, Ling; Yu, Haibing; Yang, Jigao; Huang, Guoning; Lin, Tingting"
作者地址："[Tang, Xiangrong; Ma, Jing; Wang, Xinglin; Long, Shunhua; Yu, Haibing; Huang, Guoning; Lin, Tingting] Chongqing Med Univ, Ctr Reprod Med, Women & Childrens Hosp, Chongqing 400013, Peoples R China; [Tang, Xiangrong; Ma, Jing; Wang, Xinglin; Long, Shunhua; Yu, Haibing; Huang, Guoning; Lin, Tingting] Chongqing Hlth Ctr Women & Children, Chongqing 400013, Peoples R China; [Wan, Ling; Yang, Jigao] Chongqing Populat & Family Planning Sci & Technol, Chongqing 400020, Peoples R China"
通信作者："Huang, GN; Lin, TT (通讯作者)，Chongqing Med Univ, Ctr Reprod Med, Women & Childrens Hosp, Chongqing 400013, Peoples R China.; Huang, GN; Lin, TT (通讯作者)，Chongqing Hlth Ctr Women & Children, Chongqing 400013, Peoples R China."
来源：JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
ESI学科分类：CLINICAL MEDICINE
WOS号：WOS:001020278000001
JCR分区：Q1
影响因子：3.2
年份：2023
卷号：
期号：
开始页：
结束页：
文献类型：Review; Early Access
关键词：CFAP69; Asthenoteratozoospermia; MMAF; Assisted reproductive technology
摘要："PurposeMultiple morphological abnormalities of the sperm flagella (MMAF) are a severe form of sperm defect causing male infertility. Previous studies identified the variants in the CFAP69 gene as a MMAF-associated factor, but few cases have been reported. This study was performed to identify additional variants in CFAP69 and describe the semen characteristics and outcomes of assisted reproductive technology (ART) in CFAP69-affected couples.MethodsGenetic testing with next-generation sequencing (NGS) panel of 22 MMAF-associated genes and Sanger sequencing was performed in a cohort of 35 infertile males with MMAF to identify pathogenic variants. Morphological, ultrastructural, and immunostaining analyses were performed to investigate the characteristics of probands' spermatozoa. ART with intracytoplasmic sperm injection (ICSI) was carried out for the affected couples to get their own progenies.ResultsWe identified a novel frameshift variant in CFAP69 (c.2061dup, p. Pro688Thrfs*5) from a MMAF-affected infertile male with low sperm motility and malformed morphology of sperm. Furthermore, transmission electron microscopy and immunofluorescence staining revealed that the variant induced the aberrant ultrastructure and reduction of CFAP69 expression in the proband's spermatozoa. Moreover, the partner of the proband birthed a healthy girl through ICSI.ConclusionsThis study expanded the variant spectrum of CFAP69 and described the good outcome of ART treatment with ICSI, which is beneficial to the molecular diagnosis, genetic counseling, and treatment of infertile males with MMAF in the future."
基金机构：Chongqing medical scientific research project (joint project of Chongqing Health Commission and Science and Technology Bureau) [2023MSXM008]; Open Project Fund National Health Commission Key Laboratory of Male Reproductive Health/National Research Institute for Family Planning [2022GJP0101]
基金资助正文："This work was supported by the Chongqing medical scientific research project (joint project of Chongqing Health Commission and Science and Technology Bureau, 2023MSXM008) and Open Project Fund from the National Health Commission Key Laboratory of Male Reproductive Health/National Research Institute for Family Planning (2022GJP0101)."
