Patients with MMAF induced by novel biallelic <i>CFAP43</i> mutations have good fertility outcomes after intracytoplasmic sperm injection

作者全名："Ma, Jing; Long, Shun-Hua; Yu, Hai-Bing; Xiang, Ye-Zhou; Tang, Xiang-Rong; Li, Jia-Xun; Liu, Wei-Wei; Han, Wei; Jin, Rong; Huang, Guo-Ning; Lin, Ting-Ting"

作者地址："[Ma, Jing; Long, Shun-Hua; Yu, Hai-Bing; Xiang, Ye-Zhou; Tang, Xiang-Rong; Li, Jia-Xun; Liu, Wei-Wei; Han, Wei; Jin, Rong; Huang, Guo-Ning; Lin, Ting-Ting] Chongqing Med Univ, Ctr Reprod Med, Women & Childrens Hosp, Chongqing 400010, Peoples R China; [Ma, Jing; Long, Shun-Hua; Yu, Hai-Bing; Xiang, Ye-Zhou; Tang, Xiang-Rong; Li, Jia-Xun; Liu, Wei-Wei; Han, Wei; Jin, Rong; Huang, Guo-Ning; Lin, Ting-Ting] Chongqing Hlth Ctr Women & Children, Chongqing 400010, Peoples R China; [Huang, Guo-Ning; Lin, Ting-Ting] Chongqing Key Lab Human Embryo Engn, Chongqing 400010, 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 400010, Peoples R China.; Huang, GN; Lin, TT (通讯作者)，Chongqing Hlth Ctr Women & Children, Chongqing 400010, Peoples R China.; Huang, GN; Lin, TT (通讯作者)，Chongqing Key Lab Human Embryo Engn, Chongqing 400010, Peoples R China."

来源：ASIAN JOURNAL OF ANDROLOGY

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001083740200003

JCR分区：Q1

影响因子：3

年份：2023

卷号：25

期号：5

开始页：564

结束页：+

文献类型：Article

关键词：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 flagella. Mutations in cilia- and flagella-associated protein 43 (CFAP43) are one of the main causative factors of MMAF established to date. 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 panel. After 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 pattern. Papanicolaou staining, immunofluorescence, and electronic microscopy further clarified the semen characteristics and abnormal sperm morphologies, including disorganized axonemal and peri-axonemal structures, of the CFAP43-deficient men. The 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 boy. This 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."

基金机构：Natural Science Foundation of Chongqing [CSTC2021JCYJ-MSXMX0722]; Chongqing Health Center for Women and Children [2020YJMS01]

基金资助正文："The data presented in the study are deposited in the Genome Sequence Archive for Human in China National Genomics Data Center repository (accession number HRA002987), which are publicly accessible at https://ngdc.cncb.ac.cn/gsa-human. We thank Li Wang and Dan-Dan Song in the Center of Cryo-Electron Microscopy (CCEM), Zhejiang University, for their technical support. This research was funded by the Natural Science Foundation of Chongqing (CSTC2021JCYJ-MSXMX0722) and Chongqing Health Center for Women and Children (2020YJMS01)"