ArticleHuman genetics2021
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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13 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- From gene to geometry: the molecular morphogenesis of the fourth ventricle angle and its role in predicting brainstem dysfunction among Chiari I malformation patients.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- Chiari I malformation.Nature reviews. Disease primers · 2026Review
- Posterior fossa decompression in syndromic children with chiari-like posterior fossa crowding: a nationwide US-based study.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- Chiari Malformation and Hindbrain Descent: Characterization and New Classification Based on Mechanism and Pathogenesis, and Surgical Management.Neurospine · 2025Article
- Clinical phenotypes among patients with familial forms of Chiari malformation type 1.Journal of neurosurgery. Pediatrics · 2025Article
- Article
- Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.Birth defects research · 2025Article
- The Genetics of Chiari 1 Malformation.Journal of clinical medicine · 2024Review
- Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes.Acta veterinaria Scandinavica · 2024Article
- A Novel Craniocervical Junction Compression Severity Index-Based Grading System for Multidirectional Quantification of the Biomechanics at Foramen Magnum of Chiari Malformation Type I.Journal of neurological surgery. Part B, Skull base · 2023Article
- Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review.Journal of clinical medicine · 2023Review
- Chiari I malformation: management evolution and technical innovation.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Article
- On the association between Chiari malformation type 1, bone mineral density and bone related genes.Bone reports · 2022Article
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Authors and funding
25 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3-5 mm or more, the frequency of which is presumably much higher than one in 1000 births, as previously believed. Its etiology remains undefined, although a genetic basis is strongly supported by C1M presence in numerous genetic syndromes associated with different genes. Whole-exome sequencing (WES) in 51 between isolated and syndromic pediatric cases and their relatives was performed after confirmation of the defect by brain magnetic resonance image (MRI). Moreover, in all the cases showing an inherited candidate variant, brain MRI was performed in both parents and not only in the carrier one to investigate whether the defect segregated with the variant. More than half of the variants were Missense and belonged to the same chromatin-remodeling genes whose protein truncation variants are associated with severe neurodevelopmental syndromes. In the remaining cases, variants have been detected in genes with a role in cranial bone sutures, microcephaly, neural tube defects, and RASopathy. This study shows that the frequency of C1M is widely underestimated, in fact many of the variants, in particular those in the chromatin-remodeling genes, were inherited from a parent with C1M, either asymptomatic or with mild symptoms. In addition, C1M is a Mendelian trait, in most cases inherited as dominant. Finally, we demonstrate that modifications of the genes that regulate chromatin architecture can cause localized anatomical alterations, with symptoms of varying degrees.
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