G11778A-F621

**Figure 1\. Pedigree diagram for family G11778A\-F621\.**

![](/media/202606/20260630172827329137.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\-F621 | Serbia | LHON | 3 | 2 | 2020 | [32991883](https://pubmed.ncbi.nlm.nih.gov/32991883/) | Paper family 1; pedigree s |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F621 from Serbia with lhon. The pedigree record reported 3 unaffected and 2 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in all listed carriers; 3/6 carriers were affected, and the main clinical manifestation among affected carriers was lhon, subclinical lhon, early onset visual impairment.

# 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\-F621 | G11778A\-F621\-III1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-III2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-III3 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-III4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Subclinical LHON |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-IV1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-IV2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; early onset visual impairment |  |

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