Ophthalmoplegia, autosomal recessive progressive external (arPEO)

Material

2 ml EDTA blood

2 ml serum

OMIM

174763

Methods

Verification of mutations in the POLG gene by PCR, DNA sequencing, MLPA

Clinical relevance

Mutation analysis for differential diagnosis in cases of

 

- external ophthalmoplegia

- ptosis

- mitochondrial myopathy of unknown origin

- elevated lactate levels in the serum of unknown origin (> 2.2 mmol/l)

- increased pyruvate levels in the serum of unknown origin (> 150 mmol/l)

- elevated creatine kinase levels in the serum of unknown origin

(women: > 167 U/l, men: > 190 U/l)

- for risk assessment in familial clustering of arPEO or arPEO-like

conditions

General notes

Mutations in the POLG gene may cause autosomal dominant progressive external ophthalmoplegia (see Ophthalmoplegia, autosomal dominant progressive external (adPEO)) and Alper's syndrome (see Alpers' syndrome) as well as autosomal recessive progressive external ophthalmoplegia (arPEO). Due to the clinically overlapping phenotypes, a definitive diagnosis is only possible by genetic testing of other family members, in order to detect mutations in the POLG gene. As adPEO, arPEO is also characterised by an accumulation of deletions in the mitochondrial DNA.

 

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

Last update: 18.06.2018

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