Lookup NU author(s): Joanna Stewart,
Dr Gavin Hudson,
Professor Hanns Lochmuller,
Professor Patrick Chinnery,
Professor Rita Horvath
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Polymerase gamma 1 (POLG) mutations are a frequent cause of both autosomal dominant and recessive complex neurological phenotypes. In contrast, only a single pathogenic mutation in one patient was reported in POLG2 so far. Here we describe a 62-year-old woman, carrying a novel heterozygous sequence variant in the POLG2 gene. She developed bilateral ptosis at 30 years of age, followed by exercise intolerance, muscle weakness and mild CK increase in her late forties. Muscle histology and respiratory chain activities were normal. Southern blot and long range PCR detected multiple mtDNA deletions, but no depletion in muscle DNA. Sequencing of POLG, PEO1, ANT1, OPA1 and RRM2B showed normal results. A novel heteroallelic 24 bp insertion (c.1207_1208ins24) was detected in POLG2. This 24 bp insertion into exon 7 causes missplicing and loss of exon 7 in myoblast cDNA. We did not detect POLG2 mutations in 62 patients with multiple mtDNA deletions in muscle DNA, suggesting that POLG2 mutations may represent a rare cause of autosomal dominant PEO.
Author(s): Walter MC, Czemin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmuller H, Chinnery PF, Klopstock T, Horvath R
Publication type: Article
Journal: Journal of Neurology
Print publication date: 20/04/2010
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Dr. Dietrich Steinkopff Verlag
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