Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Mitochondrial TRNH gene

The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

MELAS syndrome
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2

References:

1.

Mimaki M et al. (2003) A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.

external link
2.

Melone MA et al. (2004) Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

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3.

Shin WS et al. (2000) A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.

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4.

Crimi M et al. (2003) A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

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5.

Taylor RW et al. (2004) Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.

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6.

Yan X et al. (2011) Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.

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7.

NCBI article

NCBI 4564 external link
8.

OMIM.ORG article

Omim 590040 external link
9.

Orphanet article

Orphanet ID 166766 external link
Update: Aug. 14, 2020
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