Evidence map›Paper›PMID 39223386›Full record

ArticleMolecular genetics and genomics : MGG2024

A homozygous missense variant in YTHDC2 induces azoospermia in two siblings.

Shixiong Tian, Muhammad Faheem, Humayoon Shafique Satti, Jianqiu Xiao, Feng Zhang, Tahir Naeem Khan, Chunyu Liu

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In one paragraph

Article in Molecular genetics and genomics : MGG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Shixiong TianShanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, 200438, China.
Muhammad FaheemDepartment of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
Humayoon Shafique SattiDepartment of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
Jianqiu XiaoDivision of Bone and Mineral Diseases, Musculoskeletal Research Center, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Feng ZhangShanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, 200438, China.
Tahir Naeem KhanDepartment of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan. tahir.khan@numspak.edu.pk.
Chunyu LiuSoong Ching Ling Institute of Maternity and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China. liuchunyu@fudan.edu.cn.ORCID http://orcid.org/0000-0002-6732-3758

Funding

111 Project B13016China Postdoctoral Science Foundation 2020TQ0072National Natural Science Foundation of China 31521003National Natural Science Foundation of China 31625015National Natural Science Foundation of China 32100480National Natural Science Foundation of China 32370654Shanghai Municipal Science and Technology Major Project 2017SHZDZX01
6 · The paper itself

Abstract

Male infertility is a complex multifactorial reproductive disorder with highly heterogeneous phenotypic presentations. Azoospermia is a medically non-manageable cause of male infertility affecting ∼1% of men. Precise etiology of azoospermia is not known in approximately three-fourth of the cases. To explore the genetic basis of azoospermia, we performed whole exome sequencing in two non-obstructive azoospermia affected siblings from a consanguineous Pakistani family. Bioinformatic filtering and segregation analysis of whole exome sequencing data resulted in the identification of a rare homozygous missense variant (c.962G>C, p. Arg321Thr) in YTHDC2, segregating with disease in the family. Structural analysis of the missense variant identified in our study and two previously reported functionally characterized missense changes (p. Glu332Gln and p. His327Arg) in mice showed that all these three variants may affect Mg

Indexed as

AzoospermiaExome SequencingHomozygoteMutation, MissensePedigreeSiblingsAdultAnimalsConsanguinityHumansInfertility, MaleMaleMicePakistanRNA HelicasesRNA HelicasesYTHDC2 protein, humanAzoospermiaExome sequencingMeiotic arrestYTHDC2

Identifiers

PMID39223386

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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.