Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation
IntroductionSevere oligoasthenospermia (SOA) is a prevalent cause of male infertility. However, the underlying causes of most SOA cases remain unclear due to the complexity of germ cell development and the significant genetic heterogeneity associated with male infertility. Therefore, in this study,...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1531697/full |
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| author | Xiaojun Wen Zhiming Li Lizi Cheng Jianhong Wei Wenjuan Yu Xiufeng Lin Xiufeng Lin Xiaowu Fang |
| author_facet | Xiaojun Wen Zhiming Li Lizi Cheng Jianhong Wei Wenjuan Yu Xiufeng Lin Xiufeng Lin Xiaowu Fang |
| author_sort | Xiaojun Wen |
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| description | IntroductionSevere oligoasthenospermia (SOA) is a prevalent cause of male infertility. However, the underlying causes of most SOA cases remain unclear due to the complexity of germ cell development and the significant genetic heterogeneity associated with male infertility. Therefore, in this study, we aimed to elucidate the genetic etiology of two cases of male infertility resulting from SOA and clarify the novel clinical phenotype associated with a heterozygous mutation at the c.346-1G>A site of the SOHLH1 gene.Methods and resultsThrough whole-exome sequencing, we found that patients with SOA carried heterozygous mutations at the c.346-1G>A site. This variant is classified as pathogenic based on disease database records and literature reports. Notably, our study demonstrated that patients with heterozygous mutations at the c.346-1G>A site exhibited severely reduced sperm counts, significantly impaired sperm motility, and pronounced morphological deformities. One patient underwent assisted reproductive treatment through an intracytoplasmic sperm injection and achieved a favorable outcome, resulting in a successful pregnancy.DiscussionIn conclusion, our study provides the first evidence that the heterozygous mutation at the c.346-1G>A site of SOHLH1 is associated with SOA, and elucidates the new clinical phenotype associated with this mutation. |
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| institution | Kabale University |
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| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| spelling | doaj-art-04cd9564a79944249ef579f51d5df6572025-01-30T06:22:54ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-01-011610.3389/fgene.2025.15316971531697Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutationXiaojun Wen0Zhiming Li1Lizi Cheng2Jianhong Wei3Wenjuan Yu4Xiufeng Lin5Xiufeng Lin6Xiaowu Fang7Reproductive Medicine Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, ChinaReproductive Medicine Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, ChinaReproductive Medicine Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, ChinaReproductive Medicine Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, ChinaReproductive Medicine Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, ChinaReproductive Medicine Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, ChinaThe Second School of Clinical Medicine, Southern Medical University, Guangzhou, Guangdong, ChinaReproductive Medicine Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, ChinaIntroductionSevere oligoasthenospermia (SOA) is a prevalent cause of male infertility. However, the underlying causes of most SOA cases remain unclear due to the complexity of germ cell development and the significant genetic heterogeneity associated with male infertility. Therefore, in this study, we aimed to elucidate the genetic etiology of two cases of male infertility resulting from SOA and clarify the novel clinical phenotype associated with a heterozygous mutation at the c.346-1G>A site of the SOHLH1 gene.Methods and resultsThrough whole-exome sequencing, we found that patients with SOA carried heterozygous mutations at the c.346-1G>A site. This variant is classified as pathogenic based on disease database records and literature reports. Notably, our study demonstrated that patients with heterozygous mutations at the c.346-1G>A site exhibited severely reduced sperm counts, significantly impaired sperm motility, and pronounced morphological deformities. One patient underwent assisted reproductive treatment through an intracytoplasmic sperm injection and achieved a favorable outcome, resulting in a successful pregnancy.DiscussionIn conclusion, our study provides the first evidence that the heterozygous mutation at the c.346-1G>A site of SOHLH1 is associated with SOA, and elucidates the new clinical phenotype associated with this mutation.https://www.frontiersin.org/articles/10.3389/fgene.2025.1531697/fullmale infertilitySOASOHLH1 genenovel clinical phenotypeintracytoplasmic sperm injection |
| spellingShingle | Xiaojun Wen Zhiming Li Lizi Cheng Jianhong Wei Wenjuan Yu Xiufeng Lin Xiufeng Lin Xiaowu Fang Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation Frontiers in Genetics male infertility SOA SOHLH1 gene novel clinical phenotype intracytoplasmic sperm injection |
| title | Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation |
| title_full | Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation |
| title_fullStr | Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation |
| title_full_unstemmed | Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation |
| title_short | Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation |
| title_sort | clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous sohlh1 c 346 1g a mutation |
| topic | male infertility SOA SOHLH1 gene novel clinical phenotype intracytoplasmic sperm injection |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2025.1531697/full |
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