Introduction
Leber Hereditary Optic Neuropathy
Epidemiology
Mitochondrial gene | Nucleotide change | |
---|---|---|
Common variants (~ 90%) |
MTND1
| m.3460 G > Aa
|
MTND4
| m.11778 G > Aa
| |
MTND6
| m.14484 T > Ca
| |
Rare variants (~ 10%) |
MTND1
| m.3376 G > A, m.3635 G > Aa, m.3697 G > A, m.3700 G > A, m.3733 G > Aa, m.4025 C > T, m.4160 T > C, m.4171 C > Aa
|
MTND2
| m.4640 C > A, m.5244 G > A | |
MTND3
| m.10237 T > C | |
MTND4
| m.11696 G > A, m.11253 T > C | |
MTND4L
| m.10663 T > Ca
| |
MTND5
| m.12811 T > C, m.12848 C > T, m.13637 A > G, m.13730 G > A | |
MTND6
| m.14325 T > C, m.14568 C > T, m.14459 G > Aa, m.14729 G > A, m.14482 C > Aa, m.14482 C > Ga, m.14495 A > Ga, m.14498 C > T, m.14568 C > Ta, m.14596 A > T | |
MTATP6
| m.9101 T > C | |
MTCO3
| m.9804 G > A | |
MTCYB
| m.14831 G > A |
Clinical Manifestations
Syndromal LHON Phenotypes
Disease Modifiers
Mitochondrial Encephalomyopathies
Nuclear Mitochondrial Disorders
Autosomal-Dominant Optic Atrophy
Epidemiology
Disease Genes and Candidate Loci
Inheritance | Locus | Gene | OMIM | Phenotypes |
---|---|---|---|---|
Dominant | 1p36.2 |
MFN2
| 601152 | Hereditary motor and sensory neuropathy type 6 (HMSN-6, CMT2A) |
3q28–q29 |
OPA1
| 165500 | Isolated optic atrophy and syndromal dominant optic atrophy (DOA+) | |
19q13.2–q13.3 |
OPA3
| 165300 | Autosomal-dominant optic atrophy and early-onset cataracts (ADOAC) | |
Recessive | 9q13–q21.1 |
FXN
| 229300 | Friedreich’s ataxia (FRDA) |
11q14.1–q21 |
TMEM126A
| 612989 | Optic atrophy ± auditory neuropathy | |
16q24.3 |
SPG7
| 607259 | Hereditary spastic paraplegia type 7 (HSP-7) | |
19q13.2–q13.3 |
OPA3
| 258501 | Type III 3-methylglutaconic aciduria (Costeff syndrome) |