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Croatian Medical Journal, Vol. 66 No. 1, 2025.

Book review

https://doi.org/10.3325/cmj.2025.66.56

Chiari malformation type 1 with combined nuclear PAX1 and DKK1 genes and mitochondrial D-loop variants: a case report

Siti Nornazihah Mohd Rosdi ; Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia
Suzuanhafizan Omar ; Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia
Mazira Mohamad Ghazali ; Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia
Ab Rahman Izaini Ghani ; Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia
Abdul Aziz Mohamed Yusof ; Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia *

* Corresponding author.

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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 un
clear, 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 si
lent 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 po
tential role of genetic alterations in D-loop in CM 1

Keywords

Hrčak ID:

352471

URI

https://hrcak.srce.hr/352471

Publication date:

20.2.2025.

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