RGD Reference Report - Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. - Rat Genome Database

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Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Authors: Van Goethem, G  Schwartz, M  Lofgren, A  Dermaut, B  Van Broeckhoven, C  Vissing, J 
Citation: Van Goethem G, etal., Eur J Hum Genet. 2003 Jul;11(7):547-9.
RGD ID: 8694177
Pubmed: PMID:12825077   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.ejhg.5201002   (Journal Full-text)

Autosomal recessive progressive external ophthalmoplegia (PEO) is one clinical disorder associated with multiple mitochondrial DNA deletions and can be caused by missense mutations in POLG, the gene encoding the mitochondrial DNA polymerase gamma. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is another autosomal recessive disorder associated with PEO and multiple deletions of mitochondrial DNA in skeletal muscle. In several patients this disorder is caused by loss of function mutations in the gene encoding thymidine phosphorylase (TP). We report a recessive family with features of MNGIE but no leukoencephalopathy in which two patients carry three missense mutations in POLG, of which two are novel mutations (N846S and P587L). The third mutation was previously reported as a recessive POLG mutation (T251I). This finding indicates the need for POLG sequencing in patients with features of MNGIE without TP mutations.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
POLGHumanmitochondrial encephalomyopathy  IAGP DNA:mutations:cds:p.N846S, p.P587L(human)RGD 
PolgRatmitochondrial encephalomyopathy  ISOPOLG (Homo sapiens)DNA:mutations:cds:p.N846S, p.P587L(human)RGD 
PolgMousemitochondrial encephalomyopathy  ISOPOLG (Homo sapiens)DNA:mutations:cds:p.N846S, p.P587L(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Polg  (DNA polymerase gamma, catalytic subunit)

Genes (Mus musculus)
Polg  (polymerase (DNA directed), gamma)

Genes (Homo sapiens)
POLG  (DNA polymerase gamma, catalytic subunit)


Additional Information