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Gene Review:

ETM2 - essential tremor 2

Homo sapiens

Synonyms: ETM

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Disease relevance of ETM2

Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea [1].
ET is a common movement disorder that is genetically linked to ETM2 in four large families [2].
Genetic studies excluded linkage to ETM1 and ETM2 loci, as well as a candidate locus for parkinsonism and postural tremor on chromosome 4p [3].

High impact information on ETM2

Haplotype analysis of the ETM2 locus in familial essential tremor [2].
The objective of this study was to analyze a sample of unrelated individuals with autosomal dominant essential tremor (ET) for a genetic association with loci in a candidate region (ETM2) on chromosome 2p24.1 that harbors a disease gene for ET [2].
Although two susceptibility loci were identified on chromosome 2p24 (ETM2) and 3q13 (ETM1 or FET1), the exact transcript(s) has not been cloned [1].
Linkage disequilibrium studies in separate population samples from the United States and Singapore suggest an association between ET and loci at ETM2 [4].
A gene for autosomal dominant familial essential tremor maps to a 9.1 cM interval flanked by loci D2S224 and D2S405 (ETM2) on human chromosome 2p24.3-p24 [5].

Biological context of ETM2

Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor [6].
A complementary 3.9 Mb integrated physical map of the human ETM2 region was constructed by identifying GenBank contigs that contained seven BAC DNA sequences and common STSs [5].

References

Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea. Kim, J.H., Cho, Y.H., Kim, J.K., Park, Y.G., Chang, J.W. Mov. Disord. (2005) [Pubmed]
Haplotype analysis of the ETM2 locus in familial essential tremor. Higgins, J.J., Jankovic, J., Lombardi, R.Q., Pucilowska, J., Tan, E.K., Ashizawa, T., Ruszczyk, M.U. Neurogenetics (2003) [Pubmed]
Genetic heterogeneity in autosomal dominant essential tremor. Kovach, M.J., Ruiz, J., Kimonis, K., Mueed, S., Sinha, S., Higgins, C., Elble, S., Elble, R., Kimonis, V.E. Genet. Med. (2001) [Pubmed]
A variant in the HS1-BP3 gene is associated with familial essential tremor. Higgins, J.J., Lombardi, R.Q., Pucilowska, J., Jankovic, J., Tan, E.K., Rooney, J.P. Neurology (2005) [Pubmed]
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2. Higgins, J.J., Lombardi, R.Q., Pucilowska, J., Ruszczyk, M.U. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2004) [Pubmed]
Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor. Higgins, J.J., Lombardi, R.Q., Tan, E.K., Jankovic, J., Pucilowska, J., Rooney, J.P. Clin. Genet. (2004) [Pubmed]

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