Evidence map›Paper›PMID 42875786›Full record

ArticleBMC medical genomics2026

Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia.

Congcong Teng, Xinhua Tang, Lin Li, Yaxian Ma, Yuancun Zhao, Qing Chen, Hong Shi, Jie Zhang

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In one paragraph

Article in BMC medical genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Congcong Teng *Medical School, the First People's Hospital of Yunnan Province, Kunming University of Science and Technology, Kunming, 650500, China.
Xinhua Tang *Medical School, the First People's Hospital of Yunnan Province, Kunming University of Science and Technology, Kunming, 650500, China.
Lin LiState Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, 650500, China.
Yaxian MaDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, the First People's Hospital of Yunnan Province, Kunming, 650032, China.
Yuancun ZhaoDepartment of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, 650032, China.
Qing ChenDepartment of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, 650032, China.
Hong ShiState Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, 650500, China. shih@kust.edu.cn.
Jie ZhangMedical School, the First People's Hospital of Yunnan Province, Kunming University of Science and Technology, Kunming, 650500, China. kmzhjie@aliyun.com.

Funding

Basic Research Project-Key Projects of Yunnan Province 202301AS070007Basic Research Projects of Yunnan Province 202501AY070001-021High-end Medical Talents of Yunnan Provincial Health Commission L-2024016Key Project of Yunnan Provincial Clinical Medicine Center for Hematological Diseases 2024YNLCYXZX0263National Natural Science Foundation of China 82160319Young and Middle-Aged Academic Leaders Planning Commission of Yunnan Province 202105AC160034
6 · The paper itself

Abstract

backgroundPathogenic variants in CFAP65 have been reported in male infertility with sperm motility defects. This study investigated a novel homozygous CFAP65 splice-site variant identified in a consanguineous family in which the proband presented with oligozoospermia and complete asthenozoospermia.

methodsWhole-exome sequencing was performed to identify candidate variants, followed by population- and disease-database annotation. Kinship and runs of homozygosity analyses were used to assess familial relatedness and autozygosity. RNA Splicer prediction and a minigene assay in HEK-293T cells were performed to evaluate the splicing effect of the identified variant.

resultsSemen analysis showed a sperm concentration of 8.1 × 10⁶/mL, with total and progressive motility of 0%. Whole-exome sequencing identified a novel homozygous canonical splice-site variant in CFAP65 (NM_194302.4:c.645 + 1G > A), which was classified as pathogenic according to ACMG guidelines. ROH analysis showed increased autosomal homozygosity in the proband (FROH = 7.88%), supporting parental consanguinity. The minigene assay demonstrated complete exon 6 skipping, resulting in a 103-bp transcript deletion and a predicted frameshifted truncated protein p.(Pro182ArgfsTer29).

conclusionThis study expands the CFAP65 mutational spectrum and supports exon 6 skipping-mediated loss of function as the likely pathogenic mechanism. These findings highlight the value of genetic screening and functional splicing assessment in male infertility with sperm motility defects.

Indexed as

AsthenozoospermiaHomozygoteOligospermiaRNA Splice SitesRNA SplicingAdultConsanguinityExome SequencingHEK293 CellsHumansMalePedigreeRNA Splice SitesAsthenozoospermiaCFAP65Male infertilityNovel variantOligozoospermiaWhole-exome sequencing

Identifiers

PMID42875786
PMCPMC13670435

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