Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot–Marie–Tooth Neuropathy <scp>CMTX3</scp>
We report the second Xq27.1 rearrangement associated with CMTX3, providing novel clinical insights into its phenotypic and genotypic spectrum. Our findings highlight the importance of including genomic rearrangement analysis of Xq27.1 in standard diagnostic pipelines for childhood-onset CMT. Given the overlap in polyneuropathy phenotypes resulting from insertions from chromosomes 7 and 8 into the same Xq27.1 palindrome region, the pathogenic mechanism underlying peripheral neuropathy in CMTX3 likely involves dysregulation of genes within this region.
Authors
- Jussi‐Pekka Tolonen (ORCID: https://orcid.org/0000-0002-7350-386X)
- Sandra Vorimo (ORCID: https://orcid.org/0009-0003-4070-9372)
- Katri Pylkäs (ORCID: https://orcid.org/0000-0002-2449-0521)
- Jonna Komulainen‐Ebrahim (ORCID: https://orcid.org/0000-0002-3876-9830)
- Johanna Uusimaa (ORCID: https://orcid.org/0000-0002-6794-209X)
- Maria Suo‐Palosaari (ORCID: https://orcid.org/0000-0002-5500-7168)
- Johanna Piispala (ORCID: https://orcid.org/0000-0002-9052-9818)
- Elisa Rahikkala (ORCID: https://orcid.org/0000-0003-2760-7059)
- Päivi Vieira (ORCID: https://orcid.org/0000-0002-0796-8706)
- Tuomo Mantere (ORCID: https://orcid.org/0000-0003-3284-4403)
Institutions
- Oulu University Hospital (FI)
- Turku University Hospital (FI)
- NordLab (FI)
- University of Oulu (FI)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1002/mgg3.70014
- Citations
- 4
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.07
Funders
- Academy of Finland
- Biocenter, University of Oulu