Overview

Pathogenicity: Nasu-Hakola Disease : Pathogenic
Clinical Phenotype: Nasu-Hakola Disease
Position: (GRCh38/hg38):Chr6:41161385 G>-
Position: (GRCh37/hg19):Chr6:41129123 G>-
dbSNP ID: rs386834140
Coding/Non-Coding: Coding
DNA Change: Deletion
Expected RNA Consequence: Deletion
Expected Protein Consequence: Frame Shift
Codon Change: GGT to GTG
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

The rs386834140 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 French patient of Turkish descent affected by Nasu-Hakola disease (Klunemann et al., 2005). This patient began exhibiting personality and behavioral changes in his early 20s. MRI showed cerebral atrophy and leukoencephalopathy with sparing of arcuate fibers; basal ganglia calcification was seen on CT.

This variant was originally described as 267delG (Klunemann et al., 2005).

Neuropathology

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

Biological Effect

Unknown.

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References

Paper Citations

1. Klünemann HH, Ridha BH, Magy L, Wherrett JR, Hemelsoet DM, Keen RW, De Bleecker JL, Rossor MN, Marienhagen J, Klein HE, Peltonen L, Paloneva J. 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