Table 1 Mitochondrial DNA (mtDNA) variants identified in patients with LHON

From: Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

Name of the disease

OMIM# of the disease

Variant

Associated gene(s)

OMIM# of associated gene(s)

Leber hereditary optic neuropathy (LHON)

535,000

m.11778G>A a

m.11696G>A

m.11253T>C

MTND4 b

516,003

  

m.14484T>C a

m.14325T>C

m.14568C>T

m.14459G>A c

m.14729G>A

m.14482C>G c

m.14482C>A c

m.14495A>G c

m.14498C>T

m.14568C>T c

m.14596A>T

MTND6 b

516,006

  

m.3460G>A a

m.3376G>A

m.3635G>A c

m.3697G>A

m.3700G>A c

m.3733G>A c

m.4025C>T

m.4160T>C c

m.4171C>A c

MTND1 b

516,000

  

m.4640C>A

m.5244G>A

MTND2

516,001

  

m.10237T>C

MTND3

516,002

  

m.10663T>C c

MTND4L

516,004

  

m.12811T>C

m.12848C>T

m.13637A>G

m.13730G>A

MTND5

516,005

  

m.9101T>C

MTATP6

516,060

  

m.9804G>A

MTCO3

516,050

  

m.14831G>A

MTCYB

516,020

  1. Variants were assigned according to the human mitochondrial genome reference sequence NC_012920.1
  2. The remaining putative LHON variants have been found in singleton cases or in a single family, and additional evidence is required before pathogenicity can be irrefutably ascribed
  3. aThe three most common mtDNA variants that cause LHON have been highlighted in bold
  4. bCore genes
  5. cThese mtDNA variants affecting function. They have been identified in ≥2 independent LHON pedigrees and show segregation with affected disease status
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