A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature
Ημερομηνία
2017Γλώσσα
en
Λέξη-κλειδί
Επιτομή
Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as they have been coined, “microgliopathies”. Mutations in TREM2 and TYROBP genes are known to cause NHD. Interestingly, recent evidence-associated rare genetic variants of TREM2 gene with increased risk of Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease. Here, we report a 33-year-old Greek female with phenotype suggestive of NHD. Full gene sequencing of the TREM2 and TYROBP genes revealed a novel mutation in exon 2 of TREM2 gene, namely c.244G>T (p.W50C) and heterozygosity in the parents and her brother. This report extends the range of TREM2 mutations that cause NHD phenotype. In addition, we provide a comprehensive review of all reported in the literature TREM2 gene mutations and the respective wide spectrum of clinical manifestations that highlights the importance of considering TREM2 gene mutations in a variety of neurodegenerative phenotypes. © 2017 Elsevier Inc.
Collections
Related items
Showing items related by title, author, creator and subject.
-
Thumb duplication: molecular analysis of different clinical types
Kyriazis Z., Kollia P., Grivea I., Varitimidis S.E., Constantoulakis P., Dailiana Z.H. (2019)Purpose: Molecular analysis of different types of thumb duplication and identification of new suspected gene mutations. Materials and methods: In a series of patients operated for polydactyly, DNA was extracted from blood ... -
Mutation profile of KRAS and BRAF genes in patients with colorectal cancer: Association with morphological and prognostic criteria
Samara M., Kapatou K., Ioannou M., Kostopoulou Ε., Papamichali R., Papandreou C., Athanasiadis A., Koukoulis G. (2015)KRAS and BRAF mutations are well-recognized molecular alterations during colorectal carcinogenesis, but there is little agreement on their effect on tumor characteristics. Therefore, we aimed to evaluate the distribution ... -
TP53 mutations and protein immunopositivity may predict for poor outcome but also for trastuzumab benefit in patients with early breast cancer treated in the adjuvant setting
Fountzilas G., Giannoulatou E., Alexopoulou Z., Zagouri F., Timotheadou E., Papadopoulou K., Lakis S., Bobos M., Poulios C., Sotiropoulou M., Lyberopoulou A., Gogas H., Pentheroudakis G., Pectasides D., Koutras A., Christodoulou C., Papandreou C., Samantas E., Papakostas P., Kosmidis P., Bafaloukos D., Karanikiotis C., Dimopoulos M.-A., Kotoula V. (2016)Background: We investigated the impact of PIK3CA and TP53 mutations and p53 protein status on the outcome of patients who had been treated with adjuvant anthracycline-taxane chemotherapy within clinical trials in the pre- ...