AI Article Synopsis
- The study investigates a Chinese family over three generations affected by anterior segment dysgenesis (ASD) disorders, identifying multiple associated genes and biological pathways.
- Through methods such as whole exome sequencing and transcriptomic analysis, researchers discovered a specific mutation in the FN1 gene linked to the ASD patients, which was absent in healthy family members.
- The results also highlighted significant changes in gene expression, revealing 909 differentially expressed genes that play roles in crucial biological processes like focal adhesion and immune system interactions.
Article Abstract
Background: Anterior segment dysgenesis (ASD) disorders are phenotypically diverse and have multiple associated genes. This study reports on a Chinese family of three generations with ASD disorders and identifies several associated genes and pathways of the disorders.
Methods: The history of illnesses, clinical observations, and blood samples of all family members were collected. Whole exome sequencing (WES) and polymerase chain reaction (PCR) were conducted to detect the genetic variants between patients and control members in the family. Transcriptomic study and quantitative real-time PCR (qRT-PCR) were subsequently performed to validate the differentially expressed genes (DEGs) and investigate the possible mechanisms of ASD caused by the variations.
Results: The medical examination and illness history identified four members of the family diagnosed with ASD (III:3, II:3, II:2 and I:2). All four patients suffered various degrees of corneal opacity with abnormally thin cornea. Members II:3, II:2, and I:2 also had cataracts and iris hypoplasia and received an intraocular lens implant before the age of 20. We detected a heterozygous missense variation c.6122G > A (p.R2041Q and rs746145647) in fibronectin1 (FN1) in the four patients in this family that was absent in the other healthy members. The transcriptome and RT-PCR analysis revealed that the FN1 mRNA level was significantly upregulated in the blood samples of patients compared to healthy controls. A total of 909 DEGs were identified, including 607 upregulated genes and 302 downregulated genes. GO and KEGG annotation revealed that many DEGs were involved in biological processes closely related to focal adhesion, extracellular matrix-receptor interaction, TGF-β pathway, and the immune system.
Conclusion: This study identified an FN1 mutation associated with ASD patients and probed potential pathways related to it.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/jgm.70001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Decreased Structural Connectivity Between Thalamic Nuclei and Hippocampus in Temporal Lobe Epilepsy-A Diffusion Tensor Imaging-Based Study.
Eur J Neurol
January 2025
Department of Neurosurgery, Medical University of Vienna, Vienna, Austria.
Background: Temporal lobe epilepsy (TLE) can lead to structural brain abnormalities, with thalamus atrophy being the most common extratemporal alteration. This study used probabilistic tractography to investigate the structural connectivity between individual thalamic nuclei and the hippocampus in TLE.
Methods: Thirty-six TLE patients who underwent pre-surgical 3 Tesla magnetic resonance imaging (MRI) and 18 healthy controls were enrolled in this study.
Successful Intravascular Ultrasound-Guided Shockwave Intravascular Lithotripsy for a Severely Calcified and Resistant Proximal Left Anterior Descending Coronary Artery Lesion in a Patient with ST-Segment Elevation Myocardial Infarction.
Turk Kardiyol Dern Ars
January 2025
12th Cardiology Department, Hippokration Hospital, Medical School, Aristotle University of Thessaloniki, Greece.
Macular Pigment Changes and Visual Recovery Following Successful Full-Thickness Macular Hole Closure Using the Inverted Flap Technique.
J Clin Med
January 2025
Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples "Federico II", 80131 Napoli, Italy.
: This study aimed to assess the role of macular pigment optical density (MPOD) in patients with a full-thickness macular hole (FTMH) compared to healthy controls, evaluating postoperative changes in MPOD and exploring potential correlations with visual outcomes. : This prospective, cross-sectional, comparative study included 16 eyes from FTMH patients who achieved anatomical hole closure following pars plana vitrectomy with the inverted ILM flap technique. Each eye underwent a comprehensive ophthalmologic examination, including BCVA and intraocular pressure measurements, anterior segment evaluation, fundus examination, and macular assessment with Enhanced Depth Imaging Optical Coherence Tomography (EDI-OCT, Spectralis, Heidelberg Engineering Inc.
View Article and Find Full Text PDFEfficiency and Safety of Repeated Vertebroplasty for Adjacent Segment Fractures.
J Clin Med
December 2024
Department of Orthopedics, School of Medicine, National Yang Ming Chiao Tung University, Taipei 11221, Taiwan.
To review the outcomes of patients who underwent repeated vertebroplasty (VP) surgery for adjacent segment fractures (ASF), defined as new osteoporotic vertebral fractures occurring at levels immediately above or below a previously treated vertebra. From 1 January 2018, to 31 December 2020, forty-one patients who developed ASF following initial VP and underwent repeated VP were enrolled in our study. Radiographic measurements included single and two-segment kyphotic angles (SKA and TKA), and anterior and mid-vertebral body height (AVH and MVH).
View Article and Find Full Text PDFDemographic Characteristics and Treatment Outcomes of Intracranial Atherosclerosis Stenting: A Retrospective Case-Series of 216 Consecutive Patients.
J Clin Med
December 2024
"Joint-Stock Company" Central Clinical Hospital, Almaty 050060, Kazakhstan.
Intracranial atherosclerosis (ICAS) is a major cause of ischemic stroke, disproportionately affecting populations with significant vascular risk factors. Although ICAS imposes a considerable health burden, research on this condition in Central Asia remains scarce, especially among the Kazakh population. This study analyzes demographic characteristics, treatment outcomes, and procedural challenges associated with ICAS in 216 patients treated at a single institution.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!