G14459A-F3

**Figure 1\. Pedigree diagram for family G14459A\-F3\.**

![](/media/202606/20260630175609188724.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14459 | m.14459G\>A | G14459A\-F3 | Hispanic\-American | LHON and dystonia | ND | ND | 1994 | [8016139](https://pubmed.ncbi.nlm.nih.gov/8016139/) |  |

The **m.14459G\>A** variant in MT\-ND6 was reported in family G14459A\-F3 from Hispanic\-American with lhon and dystonia. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 5/6 carriers were affected, and the main clinical manifestation among affected carriers was lhon with bilateral optic atrophy, lhon patient, milder dystonia with greater intellectual impairment, early\-onset dystonia with bilateral basal ganglia lesions, mild generalized dystonia with abnormal basal ganglia lucencies.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14459 | m.14459G\>A | G14459A\-F3 | G14459A\-F3\-III6 | Fam | F | N | Y | ND | 32 years | 73% | / | / | / | LHON with bilateral optic atrophy | Original label III\-10 |
| 2 | 14459 | m.14459G\>A | G14459A\-F3 | G14459A\-F3\-III3 | Fam | F | N | ND | ND | ND | \>99% | / | / | / | ND | Original label III\-5 |
| 3 | 14459 | m.14459G\>A | G14459A\-F3 | G14459A\-F3\-IV8 | Fam | ND | N | Y | ND | ND | \>99% | / | / | / | LHON patient | Original label IV\-26 |
| 4 | 14459 | m.14459G\>A | G14459A\-F3 | G14459A\-F3\-IV11 | Fam | ND | N | Y | ND | 13 years | \>99% | / | / | / | Milder dystonia with greater intellectual impairment | Original label IV\-35 |
| 5 | 14459 | m.14459G\>A | G14459A\-F3 | G14459A\-F3\-IV12 | Fam | F | Y | Y | ND | 10 years | \>99% | / | / | / | Early\-onset dystonia with bilateral basal ganglia lesions | Original label IV\-36 |
| 6 | 14459 | m.14459G\>A | G14459A\-F3 | G14459A\-F3\-V1 | Fam | ND | N | Y | ND | 5 years | / | / | / | \>99% (ND) | Mild generalized dystonia with abnormal basal ganglia lucencies | Original label V\-11 |

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