G11778A-F3

**Figure 1\. Pedigree diagram for family G11778A\-F3\.**

![](/media/202606/20260630155113785647.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\-F3 | USA | LHON | 4 | 2 | 1992 | [1346348](https://pubmed.ncbi.nlm.nih.gov/1346348/) | Paper pedigree B |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F3 from USA with lhon. The pedigree record reported 4 unaffected and 2 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 3/7 carriers were affected, and the main clinical manifestation among affected carriers was lhon, visual loss onset age 15, visual loss onset age 16, visual loss onset age 5\.

# 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\-F3 | G11778A\-F3\-I1 | Uninf | F | N | N | A | 64 | 67% | / | / | / | Healthy | Original carrier identifier: B\-I\-2 |
| 2 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-II1 | Fam | F | N | Y | A | 47 | 84% | / | / | / | LHON; visual loss onset age 15 | Original carrier identifier: B\-II\-1 |
| 3 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-II2 | Fam | M | N | Y | A | 44 | 77% | / | / | / | LHON; visual loss onset age 16 | Original carrier identifier: B\-II\-2 |
| 4 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-II3 | Fam | F | N | N | A | 43 | 92% | / | / | / | Healthy | Original carrier identifier: B\-II\-3 |
| 5 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-III1 | Fam | F | N | N | A | 23 | 82% | / | / | / | Healthy | Original carrier identifier: B\-III\-1 |
| 6 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-III2 | Fam | F | N | N | A | 15 | 85% | / | / | / | Healthy | Original carrier identifier: B\-III\-2 |
| 7 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-III3 | Fam | M | Y | Y | A | 15 | 90% | / | / | / | LHON; visual loss onset age 5 | Original carrier identifier: B\-III\-3 |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).