ArticleJournal of medical genetics2016
AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis.
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Associations of LBX1 gene and adolescent idiopathic scoliosis susceptibility: a meta-analysis based on 34,626 subjects.BMC musculoskeletal disorders · 2016Pooled it
- Primary cilia gene defects in BMSCs induce idiopathic scoliosis.Cellular and molecular life sciences : CMLS · 2025Article
- Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.NPJ genomic medicine · 2025Article
- Article
- Adolescent idiopathic scoliosis in adulthood.EFORT open reviews · 2024Review
- Integrated DNA methylation analysis reveals a potential role for PTPRN2 in Marfan syndrome scoliosis.JOR spine · 2024Article
- Plasma exosome miRNA-26b-3p derived from idiopathic short stature impairs longitudinal bone growth via the AKAP2/ERK1/2 axis.Journal of nanobiotechnology · 2023Article
- Postural habits and lifestyle factors associated with adolescent idiopathic scoliosis (AIS) in China: results from a big case-control study.Journal of orthopaedic surgery and research · 2022Article
- Zebrafish: an important model for understanding scoliosis.Cellular and molecular life sciences : CMLS · 2022Review
- Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis.Scientific reports · 2022Article
- The axonemal dynein heavy chain 10 gene is essential for monocilia motility and spine alignment in zebrafish.Developmental biology · 2022Article
- Article
- Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.Human mutation · 2021Article
- Exome sequencing analysis identifies frequent oligogenic involvement andJournal of medical genetics · 2020Article
- Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes,Frontiers in cell and developmental biology · 2020Article
- Etiology of Adolescent Idiopathic Scoliosis: A Literature Review.Asian spine journal · 2019Article
- Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis.Frontiers in bioengineering and biotechnology · 2019Article
- Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology.G3 (Bethesda, Md.) · 2018Article
- Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.Journal of cardiovascular development and disease · 2018Review
- AKAP2 is upregulated in ovarian cancer, and promotes growth and migration of cancer cells.Molecular medicine reports · 2017Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAdolescent idiopathic scoliosis exhibits high heritability and is one of the most common spinal deformities found in adolescent populations. However, little is known about the disease-causing genes in families with adolescent idiopathic scoliosis exhibiting Mendelian inheritance.
objectiveThe aim of this study was to identify the causative gene in a family with adolescent idiopathic scoliosis.
methodsWhole-exome sequencing was performed on this family to identify the candidate gene. Sanger sequencing was conducted to validate the candidate mutations and familial segregation. Real-time QPCR was used to measure the expression level of the possible causative gene.
resultsWe identified the mutation c.2645A>C (p.E882A) within the AKAP2 gene, which cosegregated with the adolescent idiopathic scoliosis phenotypes. AKAP2 is located in a previously reported linkage locus (IS4) on chromosome 9q31.2-q34.2 and has been implicated in skeletal development. The mutation was absent in dbSNP144, ESP6500 and 503 ethnicity-matched controls. Real-time QPCR revealed that the mRNA expression level in the patients was increased significantly compared with the family controls (p<0.0001).
conclusionsAKAP2 was therefore implicated as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis. Further studies should be conducted to validate the results from the perspective of both the genetics and pathogenesis of this disease.
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