ArticleJournal of human genetics2020
Identification of novel FBN1 variations implicated in congenital scoliosis.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- The role of genetics and molecular mechanisms in early onset scoliosis.Journal of clinical orthopaedics and trauma · 2026Review
- Congenital Scoliosis: A Comprehensive Review of Diagnosis, Management, and Surgical Decision-Making in Pediatric Spinal Deformity-An Expanded Narrative Review.Journal of clinical medicine · 2025Review
- Whole-Exome Sequencing of Discordant Monozygotic Twins for Congenital Scoliosis: A Family Case Study.Genes · 2025Article
- Advances in the diagnosis and treatment of congenital scoliosis.European journal of medical research · 2025Review
- Rare missense variants inJournal of medical genetics · 2025Article
- Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective.World journal of orthopedics · 2025Review
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.Human molecular genetics · 2023Article
- Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis.Journal of pediatric genetics · 2022Article
- Article
- [Latest advances in the diagnosis and treatment of Marfan syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Review
- Congenital scoliosis: a narrative review and proposal of a treatment algorithm.EFORT open reviews · 2022Review
- CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans.Molecular genetics & genomic medicine · 2021Article
- Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis.Genes · 2021Article
- Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52.International journal of molecular sciences · 2021Article
- Whole-genome methylation analysis reveals novel epigenetic perturbations of congenital scoliosis.Molecular therapy. Nucleic acids · 2021Article
- Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism.Frontiers in cell and developmental biology · 2021Article
- Body Posture Defects and Body Composition in School-Age Children.Children (Basel, Switzerland) · 2020Article
- Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis.Molecular genetics & genomic medicine · 2020Article
- Genome-Wide Analysis of circular RNAs and validation of hsa_circ_0006719 as a potential novel diagnostic biomarker in congenital scoliosis patients.Journal of cellular and molecular medicine · 2020Article
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Authors and funding
31 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic CS genes remain to be elucidated. In this study, we analyzed exome sequencing (ES) data of 615 Chinese CS from the Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) project. Cosegregation studies for 103 familial CS identified a novel heterozygous nonsense variant, c.2649G>A (p.Trp883Ter) in FBN1. The association between FBN1 and CS was then analyzed by extracting FBN1 variants from ES data of 574 sporadic CS and 828 controls; 30 novel variants were identified and prioritized for further analyses. A mutational burden test showed that the deleterious FBN1 variants were significantly enriched in CS subjects (OR = 3.9, P = 0.03 by Fisher's exact test). One missense variant, c.2613A>C (p.Leu871Phe) was recurrent in two unrelated CS subjects, and in vitro functional experiments for the variant suggest that FBN1 may contribute to CS by upregulating the transforming growth factor beta (TGF-β) signaling. Our study expanded the phenotypic spectrum of FBN1, and provided nove insights into the genetic etiology of CS.
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