ArticleCroatian medical journal2025
Chiari malformation type 1 with combined nuclear PAX1 and DKK1 genes and mitochondrial D-loop variants: a case report.
Article in Croatian medical journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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
- Nuclear and Mitochondrial DNA Variants in Chiari Malformation Type 1: Insights from an East Coast Malaysian Cohort.The Eurasian journal of medicine · 2026Article
- Before PAX1, DKK1, and D-loop variants are held responsible for the Chiari-I malformation, the pathogenicity of each variant must be proven.Croatian medical journal · 2026Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chiari malformation type 1 (CM 1) is a rare and complex neurological condition. This congenital condition affects the lower posterior fossa, where the brain connects to the spinal cord. Although the exact cause of CM 1 remains unclear, genetic predisposition plays a considerable role in structural defects of the cerebellum. Here, we report on a 15-year-old female patient with CM 1 who exhibited both nuclear and mitochondrial genetic variants, a combination that has not been previously described. We identified a silent mutation in exon 2 (c. 556 G>A, p. Lys185=) of PAX1 and a DKK1 variant in intron 3 (548-3 t>C) in the nuclear DNA. We also screened the D-loop region of mitochondrial DNA as it exhibits a higher susceptibility to mutations than other mitochondrial DNA regions. Several hotspot variants were revealed, including those in positions 303-309 and 16519 (t>C), as well as some variants that had not been documented in MITOMAP. Our findings highlight the potential role of genetic alterations in D-loop in CM 1.
Indexed as
Identifiers
40047162PMC11947974What Socratic holds
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 Socratic graph.