Atypical Presentation of an <i>LMNB1</i> Duplication Involving the Silencer Region
We identified a 69-year-old patient with an <i>LMNB1</i> duplication who presented with a milder phenotype compared with typical <i>LMNB1</i>-related autosomal-dominant leukodystrophy. The symptoms included dysautonomia and muscle stiffness. This distinct presentation is likely attributable to the duplication of the silencer region of <i>LMNB1</i>, which may contribute to the milder symptoms observed.
Authors
- Savvina Prapiadou (ORCID: https://orcid.org/0000-0001-7415-2566)
- Joy Vijayan (ORCID: https://orcid.org/0000-0001-8811-1466)
- Benjamin Yong‐Qiang Tan (ORCID: https://orcid.org/0000-0003-1824-9077)
- Hui‐Lin Chin (ORCID: https://orcid.org/0000-0001-7431-6794)
- Xi Zhen Low (ORCID: https://orcid.org/0000-0002-1240-5908)
- Tamara N. Kimball (ORCID: https://orcid.org/0000-0002-1107-0771)
- Jia Dong James Wang (ORCID: https://orcid.org/0009-0009-0400-6999)
Institutions
- Nanyang Technological University (SG)
- Khoo Teck Puat Hospital (SG)
- Massachusetts General Hospital (US)
- National Neuroscience Institute (SG)
- National University Hospital (SG)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-04-17
- DOI
- https://doi.org/10.1212/nxg.0000000000200261
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00