Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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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.

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3.

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

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4.

Orphanet article

Orphanet ID 167905 [^]
5.

NCBI article

NCBI 4575 [^]
6.

OMIM.ORG article

Omim 590085 [^]
Update: April 29, 2019