G11778A-F105

**Figure 1\. Pedigree diagram for family G11778A\-F105\.**

![](/media/202606/20260630163129183411.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11778 | m.11778G\>A | G11778A\-F105 | Cuba | Leber hereditary optic neuropathy | ND | ND | 1994 | [8053461](https://pubmed.ncbi.nlm.nih.gov/8053461/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F105 from Cuba with leber hereditary optic neuropathy. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 1/8 listed carriers; 2/8 carriers were affected, and the main clinical manifestation among affected carriers was lhon, bilateral optic neuropathy, central scotomas, optic atrophy, bilateral central visual loss, counting fingers, optic disk pallor, pseudoedema.

# 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 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-III1 | Fam | M | N | Y | ND | 49 | Heteroplasmic | / | / | / | LHON; bilateral optic neuropathy; central scotomas; optic atrophy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-III2 | Fam | F | N | N | ND | 52 | Heteroplasmic | / | / | / | Healthy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-III3 | Fam | F | N | N | ND | 46 | Heteroplasmic | / | / | / | Healthy |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-III4 | Fam | M | N | N | ND | 41 | Heteroplasmic | / | / | / | Healthy |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-III5 | Fam | F | N | N | ND | 36 | Heteroplasmic | / | / | / | Healthy |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-IV1 | Fam | M | N | N | ND | 40 | Heteroplasmic | / | / | / | Healthy |  |
| 7 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-IV2 | Fam | M | N | N | ND | 39 | Heteroplasmic | / | / | / | Healthy |  |
| 8 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-IV3 | Fam | M | Y | Y | ND | 35 | Homo | / | / | / | LHON; bilateral central visual loss; counting fingers; optic disk pallor; pseudoedema; telangiectasias; vascular tortuosity |  |

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