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Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement
Open accessAbstract
OBJECTIVE: To identify new genes and risk factors associated with frontotemporal dementia (FTD). Several genes and loci have been associated with different forms of FTD, but a large number of families with dementia do not harbor mutations in these genes. DESIGN: Whole-exome sequencing and whole-genome genotyping were performed in all patients. Genetic variants obtained from whole-exome sequencing were integrated with the data obtained from whole-genome genotyping. SETTING: Database of the Behavioral Neurology Outpatient Clinic of the Department of Neurology, Istanbul Faculty of Medicine, Istanbul, Turkey. PATIENTS Forty-four Turkish patients with an FTD-like clinical diagnosis were included in the study. Relatives were screened when appropriate. MAIN OUTCOME MEASURE: Mutations in the triggering receptor expressed on myeloid cells 2 gene (TREM2). RESULTS: In 3 probands with FTD-like disease, we identified different homozygous mutations in TREM2 that had previously been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). None of these 3 patients had a typical clinical presentation of PLOSL: they presented with behavioral change and subsequent cognitive impairment and motor features but without any bone cysts or bone-associated phenotypes. Imaging showed white matter abnormalities as well as frontal atrophy in all 3 patients. CONCLUSIONS: Our results show that TREM2 is responsible for an unexpectedly high number of dementia cases in our cohort, suggesting that this gene should be taken into account when mutations in other dementia genes are excluded. Even for complex syndromes such as dementia, exome sequencing has proven to be a rapid and cost-effective tool to identify genetic mutations, allowing for the association of clinical phenotypes with unexpected molecular underpinnings.
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“In particular, there is converging evidence for the role of neuroinflammation in neurodegenerative dementias, including FTD, from genetic associations (Guerreiro et al., 2013; Rayaprolu et al., 2013; Broce et al., 2018), CSF (Sjogren et al., 2004; Woollacott et al., 2018), epidemiology (Miller et al., 2013, 2016), post-mortem tissue (Venneti et al., 2008; Lant et al., 2014) and animal models”
From Neuroinflammation and protein aggregation co-localize across the frontotemporal dementia spectrum (2020) · cites this paper as Guerreiro et al., 2013
In the citing paper
“Nonsense or missense mutations in TREM2 have been identified in several families with FTD.343–345”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [344]
In the citing paper
“Homozygous TREM2 p.T66M mutation has also been identified to cause FTD-like syndrome.344”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [344]
In the citing paper
“In addition to the R47H variant, further TREM2 variants have been revealed to be risk factors of AD or other CNS diseases, such as R62H (8,20), H157Y (25), Q33X, T66M and Y38C (26,27).”
From Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions (2020) · cites this paper as [27]
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Additional file 7 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160927
Additional file 6 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160924
Additional file 5 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160921
Additional file 8 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160930
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Additional file 1 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160909
Additional file 4 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160918
Additional file 10 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160897
Additional file 5 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071686
Self-citationAdditional file 2 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071677
Self-citationAdditional file 11 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160900
Additional file 1 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071674
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Additional file 3 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160915
Additional file 2 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160912
Additional file 9 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160933
Additional file 3 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071680
Self-citationAdditional file 4 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071683
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Additional file 6 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071689
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“Notably, T66M and Y38C mutations have also been identified in patients presenting with frontotemporal dementia-like phenotypes in the absence of skeletal abnormalities (47).”
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Shirotani, K., Hatta, D., Watanabe, K., Saito, T., Saido, T. C., & Iwata, N. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.18.724708
“…AD-associated risk genes expressed in microglia (Bertram et al., 2008; Hollingworth et al., 2011; Lambert et al., 2009; Naj et al., 2011), among which triggering receptor expressed on myeloid cells 2 (TREM2) has the highest odds ratio for AD (R. Guerreiro et al., 2013; Jonsson et al., 2013) .”
Yang, G., Xu, X., & Xu, Y. (2026) · Frontiers in Immunology · doi:10.3389/fimmu.2026.1893545
Zhang, Y., Zhang, A., Seo, S., Fredrickson, C., Jung, M., Shan, X., Phu, L., Cramer, A. L., Sánchez-Priego, C., Kulkarni, V. V., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.09.07.749934 · Cited by 1
TDP-43 and ALS - what's wrong with my membranes?
Dahlhaus, R., Yalcin, I., Tischer, J., & Braun, R. J. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107630
Leon, J., Yoshinaga, S., Koya, I., Palafox, G., Ando, Y., Kubo, K., Moody, J., Takao, M., Carninci, P., Shin, J. W., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.10.07.757387
Metadata
- Authors
- Guerreiro, R. J., Lohmann, E., Brás, J. M., Gibbs, J. R., Rohrer, J. D., Gurunlian, N., Dursun, B., Bilgic, B., Hanagasi, H., Gurvit, H., Emre, M., Singleton, A., & Hardy, J.
- Affiliations
- National Institutes of Health (US)
- ORCID
- Venue
- JAMA Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2013-01-01
- Volume
- 70
- Issue
- 1
- Pages
- 78
- ISSN
- 2168-6149 (ISSN-L)
- PMC
- PMC4001789
- OpenAlex
- W1984557585
- Cited by
- 374
- References
- 27
- Citations by year
- 2026: 18 · 2025: 23 · 2024: 20 · 2023: 17 · 2022: 12 · 2021: 39 · 2020: 34 · 2019: 22 · 2018: 32 · 2017: 37 · 2016: 29 · 2015: 40 · 2014: 26 · 2013: 21
- FWCI
- 27.37
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- JAMA Neurology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Wellcome Trust (089698)
- National Institutes of Health
- National Institute on Aging (Z01AG000950)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- TREM2, frontotemporal dementia, homozygous mutation, genetic diagnosis, white matter abnormalities, behavior change, cognitive impairment, exome sequencing, Turkish patients
- MeSH terms
- Adult, Humans, Male, Membrane Glycoproteins, Mutation, Receptors, Immunologic, Risk Factors, Syndrome, Frontotemporal Dementia, Exome
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