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

Mitochondrial TRNE gene

Mutations of the mitochondrial TRNE genes lead to maternally inherited diabetes with deafness..

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:

Mitochondrial diabetes
TRNE
TRNK
TRNL1
TRNS2

References:

1.

Vialettes BH et al. (1997) Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.

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2.

Damore ME et al. () Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review.

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3.

Rigoli L et al. (2001) Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family.

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4.

Perucca-Lostanlen D et al. (2002) Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness.

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5.

McFarland R et al. (2004) Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

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6.

Horvath R et al. (2009) Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

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7.

Mimaki M et al. (2010) Reversible infantile respiratory chain deficiency: a clinical and molecular study.

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8.

Uusimaa J et al. (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

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9.

Hudgson P et al. (1972) Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 1. Clinical, electrophysiological and pathological findings.

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10.

Hao H et al. (1995) Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.

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11.

Hanna MG et al. (1995) Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.

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12.

Orphanet article

Orphanet ID 140514 external link
13.

NCBI article

NCBI 4556 external link
14.

OMIM.ORG article

Omim 590025 external link
Update: Aug. 14, 2020
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