ArticleAmerican journal of medical genetics. Part A2008
Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.
Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.Human molecular genetics · 2018Pooled it
- Uncoupling memory impairments from autism-associated behaviors in Chd2 deficient mice.Molecular psychiatry · 2026Article
- Chromodomain helicase DNA-binding proteins and orofacial cleft.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2026Review
- Epigenetic roles of chromatin remodeling complexes in bone biology and the pathogenesis of bone‑related disease (Review).International journal of molecular medicine · 2025Review
- Epilepsy-associatedFrontiers in neurology · 2025Article
- Identification of key genes for mandibular prognathism in Duolang sheep via genome-wide association analysis.Frontiers in veterinary science · 2025Article
- Effects of two chd2-knockout strains on the morphology and behavior in zebrafish.Development genes and evolution · 2024Article
- Comprehensive Analysis of the Expression, Prognosis, and Immune Infiltrates for Chromodomain-Helicase-DNA-Binding Proteins in Breast Tumor.Asian Pacific journal of cancer prevention : APJCP · 2024Article
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- Regulation of human cortical interneuron development by the chromatin remodeling protein CHD2.Scientific reports · 2022Article
- Genetic animal modeling for idiopathic scoliosis research: history and considerations.Spine deformity · 2022Review
- A Novel Variant of theFrontiers in genetics · 2022Article
- Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies.Frontiers in molecular biosciences · 2022Review
- Article
- Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.Genes · 2021Review
- Sentinels of chromatin: chromodomain helicase DNA-binding proteins in development and disease.Genes & development · 2021Review
- 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.Italian journal of pediatrics · 2021Article
- CHD2-Related CNS Pathologies.International journal of molecular sciences · 2021Review
- Rare and de novo coding variants in chromodomain genes in Chiari I malformation.American journal of human genetics · 2021Article
- Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Herein we characterize an apparently balanced de novo translocation, t(X;15)(p22.2;q26.1)dn, in a female patient with scoliosis, hirsutism, learning problems, and developmental delay (DGAP025). Other clinical findings include a high-arched palate, 2-3 syndactyly of the toes, and mildly elevated serum testosterone. No known or predicted genes are disrupted by the Xp22.2 breakpoint. The 15q26.1 breakpoint disrupts chromodomain helicase DNA binding protein 2 (CHD2). Another member of the chromatin-remodeling gene family, CHD7, has been associated with a defined constellation of congenital anomalies known as coloboma, heart anomaly, choanal atresia, mental retardation, genital and ear anomalies syndrome (CHARGE) and idiopathic scoliosis. Monosomy of 15q26 also has been associated with a spectrum of congenital abnormalities and growth retardation that overlaps with those of DGAP025. To provide a biological correlate, we characterized a mutant mouse model with Chd2 disruption that is associated with embryonic and perinatal lethality. Expression analysis indicated that Chd2 is expressed in the heart, forebrain, extremities, facial and dorsal regions during specific times of embryonic development. Chd2(+/m) mice showed pronounced lordokyphosis, reduced body fat, postnatal runting, and growth retardation. These data suggest that haploinsufficiency for CHD2 could result in a complex of abnormal human phenotypes that includes scoliosis and possibly features similar to CHARGE syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.