Mutations

TREM2 A105RfsX84 (TREM2 313delG)

Overview

Pathogenicity: Nasu-Hakola Disease : Pathogenic
Clinical Phenotype: Nasu-Hakola Disease
Reference Assembly: GRCh37/hg19
Position: Chr6:41129079 G>-
dbSNP ID: rs386834141
Coding/Non-Coding: Coding
Mutation Type: Deletion
Codon Change: GCG to CGG
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

The rs386834141 variant, a single-nucleotide deletion, creates a frameshift resulting in a premature stop codon after amino acid 187. This variant, in a homozygous state, was found in a German patient affected by Nasu-Hakola disease (Klunemann et al., 2005). This patient began exhibiting personality and behavioral changes in his early 30s. MRI showed leukoencephalopathy with sparing of arcuate fibers, cerebral atrophy, and thinning of the corpus callosum. Basal ganglia calcification was seen on CT.

Neuropathology

Neuropathological characterization is currently lacking. However, imaging revealed typical findings for patients with NHD, including leukoencephalopathy with sparing of arcuate fibers, cerebral atrophy, thinning of the corpus callosum, and basal ganglia calcification (Klunemann et al., 2005).

Biological Effect

Unknown.

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. . The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology. 2005 May 10;64(9):1502-7. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology. 2005 May 10;64(9):1502-7. PubMed.

Other mutations at this position

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