G11778A-F585

**Figure 1\. Pedigree diagram for family G11778A\-F585\.**

![](/media/202606/20260630172242819496.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\-F585 | Switzerland | LHON | 3 | 0 | 2019 | [30831606](https://pubmed.ncbi.nlm.nih.gov/30831606/) | Paper family 1 |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F585 from Switzerland with lhon. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was lhon, persistent visual deterioration, optic disc swelling, telangiectasia, scotoma.

# 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\-F585 | G11778A\-F585\-I1 | Uninf | F | Y | Y | A | 51 | / | / | / | / | LHON; persistent visual deterioration; optic disc swelling/telangiectasia; scotoma |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F585 | G11778A\-F585\-II1 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F585 | G11778A\-F585\-III1 | Fam | ND | N | N | ND | ND | / | / | / | / | Healthy |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F585 | G11778A\-F585\-III2 | Fam | ND | N | N | ND | ND | / | / | / | / | Healthy |  |

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