Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection
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) a...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Asian Journal of Andrology |
| Subjects: | |
| Online Access: | http://www.ajandrology.com/article.asp?issn=1008-682X;year=2023;volume=25;issue=5;spage=564;epage=571;aulast=Ma |
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| author | Jing Ma Shun-Hua Long Hai-Bing Yu Ye-Zhou Xiang Xiang-Rong Tang Jia-Xun Li Wei-Wei Liu Wei Han Rong Jin Guo-Ning Huang Ting-Ting Lin |
| author_facet | Jing Ma Shun-Hua Long Hai-Bing Yu Ye-Zhou Xiang Xiang-Rong Tang Jia-Xun Li Wei-Wei Liu Wei Han Rong Jin Guo-Ning Huang Ting-Ting Lin |
| author_sort | Jing Ma |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T15:46:56Z |
| format | Article |
| id | doaj.art-415472d54b6f47e198ed1511f26c0529 |
| institution | Directory Open Access Journal |
| issn | 1008-682X 1745-7262 |
| language | English |
| last_indexed | 2024-03-11T15:46:56Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Asian Journal of Andrology |
| spelling | doaj.art-415472d54b6f47e198ed1511f26c05292023-10-26T05:48:56ZengWolters Kluwer Medknow PublicationsAsian Journal of Andrology1008-682X1745-72622023-01-0125556457110.4103/aja2022118Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injectionJing MaShun-Hua LongHai-Bing YuYe-Zhou XiangXiang-Rong TangJia-Xun LiWei-Wei LiuWei HanRong JinGuo-Ning HuangTing-Ting LinAs 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.http://www.ajandrology.com/article.asp?issn=1008-682X;year=2023;volume=25;issue=5;spage=564;epage=571;aulast=Maasthenoteratozoospermia; cfap43; intracytoplasmic sperm injection; mmaf |
| spellingShingle | Jing Ma Shun-Hua Long Hai-Bing Yu Ye-Zhou Xiang Xiang-Rong Tang Jia-Xun Li Wei-Wei Liu Wei Han Rong Jin Guo-Ning Huang Ting-Ting Lin Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection Asian Journal of Andrology asthenoteratozoospermia; cfap43; intracytoplasmic sperm injection; mmaf |
| title | Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection |
| title_full | Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection |
| title_fullStr | Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection |
| title_full_unstemmed | Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection |
| title_short | Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection |
| title_sort | patients with mmaf induced by novel biallelic cfap43 mutations have good fertility outcomes after intracytoplasmic sperm injection |
| topic | asthenoteratozoospermia; cfap43; intracytoplasmic sperm injection; mmaf |
| url | http://www.ajandrology.com/article.asp?issn=1008-682X;year=2023;volume=25;issue=5;spage=564;epage=571;aulast=Ma |
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