J Clin Neurol.  2019 Jul;15(3):418-420. 10.3988/jcn.2019.15.3.418.

A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia

• Lee SJ
• Kanwal S
• Yoo DH
• Park HR
• Choi BO
• Chung KW

• KMID: 2451134
• DOI: http://doi.org/10.3988/jcn.2019.15.3.418

Abstract

No abstract available.

MeSH Terms

Epilepsy*
Humans
Ophthalmoplegia*

Figure

• 

  Fig. 1 A Pakistani epilepsy family carrying a POLG2 mutation and identification of the genetic causes. A: Pedigree of the autosomal recessive epilepsy family (family ID: EF-14). Genotypes of the POLG2 mutation are indicated below the symbols indicating the examined family members. Filled and semifilled symbols represent affected and carrier individuals, respectively. The proband is indicated by the arrow. B: Sequencing chromatograms showing the c.694G>A (p.G232S) mutation in POLG2. C: Conservation of the amino acids at the mutation site (p.G232S) among several vertebrates. D: Determination of a novel long mtDNA deletion. Each 5.8-kb and 2.3-kb band indicates the WT and long deletion of mtDNA (M, 1 kb ladder; WT mtDNA with no deletion). E: Schematic diagram of the 3,485 bp deletion (partial short IR sequences). F: Sequencing chromatograms showing the break points of 3,485 bp (left, upstream region of normal mtDNA; middle, mutant mtDNA with 3,485 bp deletion; right, downstream region of normal mtDNA). IR: inverted repeat, mtDNA: mitochondrial DNA, WT: wild type.

Reference

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