Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population

Zhao, Xiaoxia; Wang, Y.J.; Wu, Y.L.; Han, Wen-Jia

doi:10.4238/gmr15048773

Cited by 9 publications

(9 citation statements)

References 14 publications

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“…Genes involved in limb development such as PITX1B-Tbx4 , homeobox genes have been associated with clubfoot 35–38. In addition to these developmental genes, mutations in other pathways including matrix proteins, sulfation genes, GLI3 (a transcription repressor), N-acetylation genes, and TGF-β signaling seem possibly contributory 39–42…”

Section: Resultsmentioning

confidence: 99%

“…[35][36][37][38] In addition to these developmental genes, mutations in other pathways including matrix proteins, sulfation genes, GLI3 (a transcription repressor), N-acetylation genes, and TGF-β signaling seem possibly contributory. [39][40][41][42] Lim-domain kinase 1 (LIMK1) is a known regulator in embryologic actin organization and cell migration. A mutation and upregulation of the LIMK1 resulted in reduced growth of the lateral motor column neurons to the peroneal musculature in a mouse clubfoot model suggesting a potential neuromuscular etiology of TEV.…”

Section: Genetics and Molecular Pathogenesismentioning

confidence: 99%

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What is New in Pediatric Orthopaedic: Basic Science

Lynch

Botros

Halanski

et al. 2022

Journal of Pediatric Orthopaedics

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Background: An understanding of musculoskeletal basic science underpins most advancements in the field of orthopaedic surgery. Knowledge of biomechanics, genetics, and molecular pathways is integral to the understanding of the pathophysiology of disease and guides novel treatment options to improve patient outcomes. The purpose of this review is to provide a comprehensive and current overview of musculoskeletal basic science relevant to pediatric orthopaedic surgery. Methods: Comprehensive Pubmed database searches were performed for all English language articles published between January 2016 and November 2021 using the following search terms: basic science, pediatric orthopaedics, fracture, trauma, spine, scoliosis, DDH, hip dysplasia, Perthes, Legg-Calve-Perthes, clubfoot, and sports medicine. Inclusion criteria focused on basic science studies of pediatric orthopaedic conditions. Clinical studies or case reports were excluded. A total of 3855 articles were retrieved. After removing duplicates and those failing to meet our inclusion criteria, 49 articles were included in the final review.Results: A total of 49 papers were selected for review based on the date of publication and updated findings. Findings are discussed in the subheadings below. Articles were then sorted into the following sub-disciplines of pediatric orthopaedics: spine, trauma, sports medicine, hip, and foot. Conclusions: With this review, we have identified many exciting developments in pediatric orthopaedic trauma, spine, hip, foot, and sports medicine that could potentially lead to changes in disease management and how we think of these processes.

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Section: Resultsmentioning

confidence: 99%

Section: Genetics and Molecular Pathogenesismentioning

confidence: 99%

What is New in Pediatric Orthopaedic: Basic Science

Lynch

Botros

Halanski

et al. 2022

Journal of Pediatric Orthopaedics

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“…Abnormal change of extracellular matrix proteins such as collagen was associated with clubfoot [ 20 ]. And collagen gene COL9A1 was a susceptible gene in clubfoot [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot

et al. 2020

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Background Congenital talipes equinovarus (clubfoot), one of the most regular pediatric congenital skeletal anomalies, seriously affects the normal growth and development of about 1 in 1000 newborns. Although it has been investigated widely, the etiology and pathogenesis of clubfoot are still controversial. Material/Methods g: Profiler, NetworkAnalyst and WebGestalt were used to probe the enriched signaling pathways by using the Gene Ontology (GO), Human Phenotype Ontology (HP), Kyoto Encyclopedia of Genes and Genomes (KEGG), Reactome (REAC), and WikiPathways (WP) databases. Large numbers of enriched signaling pathways were identified using the integrated bioinformatics enrichment analyses. Results Apoptosis or programmed cell death (PCD), disease, muscle contraction, metabolism, and immune system were the top functions. Embryo or organ morphogenesis and development, cell or muscle contraction, and apoptosis were the top biological processes, and cell/muscle contraction and apoptosis were the top molecular functions using enriched GO terms analysis. There were a large number of complex interactions in the genes, enriched pathways, and transcription factor (TF)-miRNA co-regulatory networks. Transcription factors such as FOXN3, GLI3, HOX, and NCOR2 family regulated the gene expression of APAF1, BCL2, BID, CASP, MTHFR, and TPM family. Conclusions The results of bioinformatics enrichment analysis not only supported the previously proposed hypotheses, e.g., extracellular matrix (ECM) abnormality, fetal movement reducing, genetic abnormality, muscle abnormality, neurological abnormality, skeletal abnormality and vascular abnormality, but also indicated that cellular or immune responses to external stimulus, molecular transport and metabolism may be new etiological mechanisms in clubfoot.

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“…icTeV only follows the Mendelian inheritance pattern in minorities, including Polynesians (24), and therefore further investigation into the multifactorial pathogenesis of icTeV in other ethnicities is required. Previous studies identified certain potential pathogenic genes primarily by single-nucleotide polymorphism typing combined with statistical analysis (2,11,25). Subsequently, further studies performed chromosomal microarray analysis and other methods to detect clinically significant cnVs containing important genes (7,26).…”

Section: Discussionmentioning

confidence: 99%

Whole‑exome sequencing study identifies two novel rare variations associated with congenital talipes equinovarus

Zhang

et al. 2020

Mol Med Report

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congenital talipes equinovarus (cTeV) is a common birth defect with an unclear genetic pathogenesis that results from both genetic and environmental factors. The present study aimed to identify novel variants in patients with cTeV using whole-exome sequencing (WeS) and to investigate the genetic factors responsible for the development of cTeV.a cohort of nine neonates/infants with suspected cTeV was recruited. Subsequently, sequential tests, including chromosome karyotyping and WeS, were performed for each of the participants. Familial validation was performed using Sanger sequencing and low-coverage copy-number variation (cnV) sequencing. a novel cnV containing the mediator complex subunit 13l gene at 12q24.21-q24.23 was detected by WeS and further investigated by cnVseq. additionally, a novel de novo missense variation, transforming growth factor-β receptor 2: c.1280T>C, was identified by WES and further investigated by Sanger sequencing. The two identified variations were hypothesized to be causative genetic factors for the development of cTeV in the two cases the variations were identified in. In the present study, two pathogenic variations (one cnV and one single-base variation) were detected in two chinese families with cTeV. The results of the present study may aid in investigating the molecular basis of cTeV; however, further investigation is required.

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Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population

Cited by 9 publications

References 14 publications

What is New in Pediatric Orthopaedic: Basic Science

What is New in Pediatric Orthopaedic: Basic Science

Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot

Whole‑exome sequencing study identifies two novel rare variations associated with congenital talipes equinovarus

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