Splicing Mutation in DNALI1 Causes Male Infertility with Severe Oligoasthenoteratozoospermia in Humans.

Fengbin Zhang, Jingping Li, Zhongyan Liang, Xiaopan Chen, Huimei Zheng, Jinggen Wu, Weikang Chen, Lejun Li

Abstract readCase Reports

In one paragraph

Article in Reproductive sciences (Thousand Oaks, Calif.), 2024. 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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8 authors at 2 institutions in 1 country.

Fengbin Zhang *Department of Reproductive Endocrinology, Reproductive Medicine Center, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, 310006, Zhejiang Province, China.

Jingping Li *Department of Reproductive Endocrinology, Reproductive Medicine Center, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, 310006, Zhejiang Province, China.

Zhongyan LiangDepartment of Reproductive Endocrinology, Reproductive Medicine Center, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, 310006, Zhejiang Province, China.

Xiaopan ChenDepartment of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310058, China.

Huimei ZhengDivision of Human Reproduction and Developmental Genetics, Reproductive Medicine Center, Zhejiang Provincial Key Laboratory of Precision Diagnosis and Therapy for Major Gynecological Diseases, Women's Hospital, Zhejiang University School of Medicine, Zhejiang University, Hangzhou, 310006, Zhejiang Province, China.

Jinggen WuDepartment of Reproductive Endocrinology, Reproductive Medicine Center, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, 310006, Zhejiang Province, China.

Weikang ChenDepartment of Reproductive Endocrinology, Reproductive Medicine Center, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, 310006, Zhejiang Province, China.

Lejun LiDepartment of Reproductive Endocrinology, Reproductive Medicine Center, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, 310006, Zhejiang Province, China. lilejun@zju.edu.cn.ORCID 0000-0002-8647-1035

Women's Hospital, School of Medicine, Zhejiang University · CNZhejiang Provincial People's Hospital · CN

Funding

Scientific Research Foundation of Zhejiang A and F University No. 2021KY190

6 · The paper itself

Abstract

Oligo-astheno-teratozoospermia (OAT), which is a common cause of male infertility, can be caused by genetic factors. This study reports on a case of a male patient suffering from infertility concomitant with OAT. Whole-exome sequencing (WES) confirmed the presence of a homozygous variant (NM_003462: c.464-1G > A) in the DNALI1 gene via Sanger sequencing. Immunofluorescence staining demonstrated that the DNALI1 signal was nearly undetectable in the patient's sperm. Bioinformatics analysis revealed that this mutation could reverse the splicing of the exon 4 acceptor splice site. A minigene experiment was performed to verify the mutation and the results confirmed that the mutation disrupted the splicing. Our findings show that this rare mutation in DNALI1 contributes to male infertility and OAT in humans, thereby expanding our understanding of the causes and pathogenesis of male infertility. This knowledge facilitates genetic counseling, clinical diagnosis, and therapeutic development of male infertility.

Indexed as

AsthenozoospermiaInfertility, MaleMutationOligospermiaAdultExome SequencingHumansMaleRNA SplicingTeratozoospermiaDNALI1Gene mutationMale infertilityOligo-astheno-teratozoospermia

Identifiers

PMID38212584

DOI10.1016/j.ajhg.2013.11.017

OpenAlexW4390755582

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.