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Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts
Abstract
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; MIM 221770), also known as Nasu-Hakola disease, is a recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2x10-6 (ref. 2) in the Finns. We have previously identified a shared 153-kb ancestor haplotype in all Finnish disease alleles between markers D19S1175 and D19S608 on chromosome 19q13.1 (refs 5,6). Here we characterize the molecular defect in PLOSL by identifying one large deletion in all Finnish PLOSL alleles and another mutation in a Japanese patient, both representing loss-of-function mutations, in the gene encoding TYRO protein tyrosine kinase binding protein (TYROBP; formerly DAP12). TYROBP is a transmembrane protein that has been recognized as a key activating signal transduction element in natural killer (NK) cells. On the plasma membrane of NK cells, TYROBP associates with activating receptors recognizing major histocompatibility complex (MHC) class I molecules. No abnormalities in NK cell function were detected in PLOSL patients homozygous for a null allele of TYROBP.
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“Homozygous loss-of-function mutations in TREM2 or DAP12 genes cause Nasu–Hakola disease (NHD), a rare genetic disorder characterized by fatal presenile dementia and bone cysts [38, 39].”
From TREM2 activation on microglia promotes myelin debris clearance and remyelination in a model of multiple sclerosis (2020) · cites this paper as [38]
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Metadata
- Authors
- Paloneva, J., Kestilä, M., Wu, J., Salminen, A., Böhling, T., Ruotsalainen, V., Hakola, P., Bakker, A. B. H., Phillips, J. H., Pekkarinen, P., Lanier, L. L., Timonen, T., & Peltonen, L.
- Affiliations
- University of Helsinki (FI)
- University of California, San Francisco (US)
- University of Oulu (FI)
- University of Eastern Finland (FI)
- University of California, Los Angeles (US)
- Corresponding author
- Peltonen, Leena
- Venue
- Nature Genetics
- Published
- 2000-07
- Volume
- 25
- Issue
- 3
- Pages
- 357-361
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1607556721
- Cited by
- 460
- References
- 31
- Citations by year
- 2026: 12 · 2025: 10 · 2024: 17 · 2023: 16 · 2022: 18 · 2021: 23 · 2020: 19 · 2019: 16 · 2018: 24 · 2017: 25 · 2016: 21 · 2015: 28 · 2014: 21 · 2013: 20 · 2012: 15
- FWCI
- 9.17
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bone Metabolism and Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Nasu-Hakola disease, TYROBP, DAP12, loss-of-function mutations, early-onset dementia, bone cysts, chromosome 19q13.1, NK cell signaling, natural killer cells, MHC class I recognition
- MeSH terms
- Adult, Alzheimer Disease, Amino Acid Sequence, Base Sequence, Bone Cysts, Finland, Humans, Japan, Killer Cells, Natural, Membrane Proteins, Middle Aged, Molecular Sequence Data, Receptors, Immunologic, Mutagenesis, Sequence Deletion, DNA, Complementary, Adaptor Proteins, Signal Transducing
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