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

Mitochondrial TRNS2 gene

Mutations of the mitochondrial TRNS2 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
MELAS syndrome
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2

References:

1.

Mansergh FC et al. (1999) Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.

external link
2.

Wong LJ et al. (2006) A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.

external link
3.

Lynn S et al. (1998) Mitochondrial diabetes: investigation and identification of a novel mutation.

external link
4.

Orphanet article

Orphanet ID 167905 external link
5.

NCBI article

NCBI 4575 external link
6.

OMIM.ORG article

Omim 590085 external link
Update: Aug. 14, 2020
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