A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility
Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or struc...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Asian Journal of Andrology |
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| Online Access: | https://journals.lww.com/10.4103/aja202477 |
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| author | Zheng Zhou Qi Qi Wen-Hua Wang Jie Dong Juan-Juan Xu Yu-Ming Feng Zhi-Chuan Zou Li Chen Jin-Zhao Ma Bing Yao |
| author_facet | Zheng Zhou Qi Qi Wen-Hua Wang Jie Dong Juan-Juan Xu Yu-Ming Feng Zhi-Chuan Zou Li Chen Jin-Zhao Ma Bing Yao |
| author_sort | Zheng Zhou |
| collection | DOAJ |
| description | Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia. Here, we identified a novel nonsense mutation, c.466G>T, in cilia- and flagella-associated protein 300 (CFAP300) resulting in a stop codon (p.Glu156*) through whole-exome sequencing (WES). The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm (IDA) and outer dynein arm (ODA). Bioinformatic programs predicted that the mutation is deleterious. Successful pregnancy was achieved through intracytoplasmic sperm injection (ICSI). Our results expand the spectrum of CFAP300 variants in PCD and provide reproductive guidance for infertile couples suffering from PCD caused by them. |
| format | Article |
| id | doaj-art-80672ecdfbc845e59f62c13044598ec9 |
| institution | Kabale University |
| issn | 1008-682X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Asian Journal of Andrology |
| spelling | doaj-art-80672ecdfbc845e59f62c13044598ec92025-01-08T07:35:48ZengWolters Kluwer Medknow PublicationsAsian Journal of Andrology1008-682X2025-01-0127111311910.4103/aja202477A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertilityZheng ZhouQi QiWen-Hua WangJie DongJuan-Juan XuYu-Ming FengZhi-Chuan ZouLi ChenJin-Zhao MaBing YaoPrimary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia. Here, we identified a novel nonsense mutation, c.466G>T, in cilia- and flagella-associated protein 300 (CFAP300) resulting in a stop codon (p.Glu156*) through whole-exome sequencing (WES). The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm (IDA) and outer dynein arm (ODA). Bioinformatic programs predicted that the mutation is deleterious. Successful pregnancy was achieved through intracytoplasmic sperm injection (ICSI). Our results expand the spectrum of CFAP300 variants in PCD and provide reproductive guidance for infertile couples suffering from PCD caused by them.https://journals.lww.com/10.4103/aja202477cfap300 variantmale infertilityprimary ciliary dyskinesiasperm flagellawhole-exome sequencing |
| spellingShingle | Zheng Zhou Qi Qi Wen-Hua Wang Jie Dong Juan-Juan Xu Yu-Ming Feng Zhi-Chuan Zou Li Chen Jin-Zhao Ma Bing Yao A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility Asian Journal of Andrology cfap300 variant male infertility primary ciliary dyskinesia sperm flagella whole-exome sequencing |
| title | A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility |
| title_full | A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility |
| title_fullStr | A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility |
| title_full_unstemmed | A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility |
| title_short | A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility |
| title_sort | novel homozygous mutation of cfap300 identified in a chinese patient with primary ciliary dyskinesia and infertility |
| topic | cfap300 variant male infertility primary ciliary dyskinesia sperm flagella whole-exome sequencing |
| url | https://journals.lww.com/10.4103/aja202477 |
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