SANDO syndrome

Sensory ataxic neuropathy, dysarthria, and ophthalmoplegia

Material

2 ml EDTA blood

OMIM

174763, 606075

Methods

Verification of mutations in the POLG1, and C10orf2 genes by Polymerase Chain Reaction (PCR) and subsequent sequencing

Clinical relevance

Mutation analysis for differential diagnosis in cases of

 

- external ophthalmoplegia

- ptosis

- mitochondrial myopathy of unknown origin

- sensory ataxic neuropathy

- dysarthria of unknown origin

- for risk assessment in familial clustering of SANDO syndrome or SANDO syndrome like conditions

General notes

Sensory ataxic neuropathy, dysarthria, and ophthalmoplegia (SANDO syndrome) is caused by mutations in the POLG1 and C10orf2 genes. The SANDO syndrome is a clinically heterogeneous disease, which is based on mitochondrial dysfunction. This is commonly attributable to deletions in mitochondrial DNA. The SANDO syndrome and autosomal inherited progressive external ophthalmoplegia (see Ophthalmoplegia, autosomal dominant progressive external (adPEO) and Ophthalmoplegia, autosomal recessive progressive external (arPEO)) have overlapping phenotypes.

 

The POLG1 gene is located on the long arm of chromosome 15 (more precise localisation: 15q25). So far, 135 mutations in the POLG1 gene have been identified (The Human Gene Database, as of 09.2010). Approximately 95% of currently known mutations can be detected with the molecular genetic analysis.

 

The C10orf2 gene is located on the long arm of chromosome 10 (more precise localisation: 10q24). So far, 41 mutations in the C10orf2 gene have been identified (The Human Gene Database, as of 09.2010). Approximately 95% of currently known mutations can be detected with the molecular genetic analysis.

Last update: 18.06.2018

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