Evidence map›Paper›PMID 38684630›Full record

ArticleFrontiers of medicine2024

Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.

Zhuangzhuang Yuan, Xin Zhu, Xiaohui Xie, Chenyu Wang, Heng Gu, Junlin Yang, Liangliang Fan, Rong Xiang, Yifeng Yang, Zhiping Tan

Abstract read
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Article in Frontiers of medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

10 authors.

Zhuangzhuang Yuan *Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Xin Zhu *Department of Gynecology and Obstetrics, Xiangya Hospital of Central South University, Changsha, 410008, China.
Xiaohui XieDepartment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Chenyu WangDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, 410013, China.
Heng GuDepartment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Junlin YangDepartment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Liangliang FanDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, 410013, China.
Rong XiangDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, 410013, China.
Yifeng YangDepartment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Zhiping TanDepartment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, 410011, China. zhipingtan@csu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The establishment of left-right asymmetry is a fundamental process in animal development. Interference with this process leads to a range of disorders collectively known as laterality defects, which manifest as abnormal arrangements of visceral organs. Among patients with laterality defects, congenital heart diseases (CHD) are prevalent. Through multiple model organisms, extant research has established that myosin-Id (MYO1D) deficiency causes laterality defects. This study investigated over a hundred cases and identified a novel biallelic variant of MYO1D (NM_015194: c.1531G>A; p.D511N) in a consanguineous family with complex CHD and laterality defects. Further examination of the proband revealed asthenoteratozoospermia and shortened sperm. Afterward, the effects of the D511N variant and another known MYO1D variant (NM_015194: c.2293C>T; p.P765S) were assessed. The assessment showed that both enhance the interaction with β-actin and SPAG6. Overall, this study revealed the genetic heterogeneity of this rare disease and found that MYO1D variants are correlated with laterality defects and CHD in humans. Furthermore, this research established a connection between sperm defects and MYO1D variants. It offers guidance for exploring infertility and reproductive health concerns. The findings provide a critical basis for advancing personalized medicine and genetic counseling.

Indexed as

Heart Defects, CongenitalSpermatozoaAdultFemaleHumansMaleMutationMyosin Type IPedigreeMyosin Type Icongenital heart diseaselaterality defectMYO1DSPAG6sperm defectβ-actin

Identifiers

PMID38684630

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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.