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Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.
Gilani, Naser; Bitarafan, Fatemeh; Ozaslan, Mehmet; Åsheim, Sarah; Heidari, Morteza; Garshasbi, Masoud.
Afiliação
  • Gilani N; Department of Biology, Gaziantep University, Gaziantep, Turkey.
  • Bitarafan F; Farabi Molecular Laboratory, Irbil, Iraq.
  • Ozaslan M; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Åsheim S; Department of Biology, Gaziantep University, Gaziantep, Turkey.
  • Heidari M; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Garshasbi M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Mol Genet Genomic Med ; 12(6): e2476, 2024 Jun.
Article em En | MEDLINE | ID: mdl-38888203
ABSTRACT

BACKGROUND:

The Triggering Receptor Expressed on Myeloid Cells 2 protein (TREM2) plays a crucial role in various biological processes, including osteoclast differentiation, and disease-associated microglia (DAM) activation to regulate neuroinflammation, and phagocytosis in the brain. Genetic variations in TREM2 are implicated in neurodegenerative disorders, such as Nasu-hakola disease (NHD), characterized by bone lesions, neuropsychiatric disorders, and early-onset dementia.

METHODS:

We studied 3 siblings with suspected NHD. Whole-exome sequencing was conducted on the proband to identify the possible genetic cause(s) and by Sanger sequencing to validate the identified variants in the two other affected siblings, a healthy sister, and the parents.

RESULTS:

We identified a novel homozygous deletion (c.549del; p.(Leu184Serfs*5)) in TREM2. Our literature review reveals 16 TREM2 mutations causing early-onset dementia and bone lesions.

CONCLUSION:

These findings, alongside previous research, elucidate the clinical spectrum of TREM2-related diseases, aiding accurate diagnosis and patient care. This knowledge is vital for understanding TREM2-dependent DAM and its involvement in the pathogenesis of neurodevelopmental disorders which can help to develop targeted therapies and improve outcomes for TREM2-affected individuals.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Panencefalite Esclerosante Subaguda / Glicoproteínas de Membrana / Receptores Imunológicos / Irmãos / Homozigoto / Lipodistrofia Limite: Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Panencefalite Esclerosante Subaguda / Glicoproteínas de Membrana / Receptores Imunológicos / Irmãos / Homozigoto / Lipodistrofia Limite: Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2024 Tipo de documento: Article