ArticleMolecular genetics & genomic medicine2018
Screening of known disease genes in congenital scoliosis.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Large-scale mouse mutagenesis identifies novel genes affecting vertebral anatomy.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- 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
- Advances in the diagnosis and treatment of congenital scoliosis.European journal of medical research · 2025Review
- Review
- Novel Splice Variant in theDiagnostics (Basel, Switzerland) · 2025Article
- Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective.World journal of orthopedics · 2025Review
- Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report.Frontiers in pediatrics · 2025Article
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Congenital kyphoscoliosis: Analysis of vertebral abnormalities using model animals (Review).Experimental and therapeutic medicine · 2024Review
- Planar cell polarity zebrafish models of congenital scoliosis reveal underlying defects in notochord morphogenesis.Development (Cambridge, England) · 2024Article
- Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.Scientific reports · 2023Article
- Functional Characterization of NovelHuman mutation · 2023Article
- Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis.Journal of pediatric genetics · 2022Article
- Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report.Clinical case reports · 2022Article
- Congenital scoliosis: a narrative review and proposal of a treatment algorithm.EFORT open reviews · 2022Review
- Depth Vision-Based Assessment of Bone Marrow Mesenchymal Stem Cell Differentiation Capacity in Patients with Congenital Scoliosis.Journal of healthcare engineering · 2022Article
- Other Types of Glycosylation.Advances in experimental medicine and biology · 2021Article
- Article
- Screening of known disease genes in congenital scoliosis.Molecular genetics & genomic medicine · 2018Article
Corrections and comments
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Authors and funding
25 authors at 12 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital scoliosis (CS) is defined as a lateral curvature of the spine due to the vertebral malformations and has an incidence of 0.5-1/1,000 births. We previously examined TBX6 in Japanese CS patients and revealed that approximately 10% of CS was caused by TBX6 mutations. However, the genetic cause of remaining CS is unknown.
methodsWe recruited 78 CS patients without TBX6 mutations and major comorbidities, and investigated the genes previously reported to be associated with CS and congenital vertebral malformations by whole-exome sequencing.
resultsWe identified the compound heterozygous missense variants in LFNG in one patient. No likely disease-causing variants were identified in other patients, however. LFNG encodes a GlcNAc-transferase. The LFNG variants showed loss of their enzyme function.
conclusionsA LFNG mutation is reported in a case of spondylocostal dysostosis (SCD), a skeletal dysplasia with severe malformations of vertebra and rib. The CS patient with LFNG mutations had multiple vertebral malformations including hemivertebrae, butterfly vertebrae, and block vertebrae, and rib malformations. LFNG mutations may cause a spectrum of phenotypes including CS and SCD. The current list of known disease genes could explain only a small fraction of genetic cause of CS.
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