G11778A-F13

**Figure 1\. Pedigree diagram for family G11778A\-F13\.**

![](/media/202606/20260630155303943565.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\-F13 | Sweden | LHON | 9 | 3 | 1991 | [1763894](https://pubmed.ncbi.nlm.nih.gov/1763894/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F13 from Sweden with lhon. The pedigree record reported 9 unaffected and 3 affected maternal relatives, and the carrier table includes 13 listed carriers. Homoplasmy was reported in all listed carriers; 4/13 carriers were affected, and the main clinical manifestation among affected carriers was lhon, became blind at age 72, visual loss onset age 18, visual loss onset age 26, bilateral optic atrophy, tremor, dystonia, putaminal lesions.

# 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\-F13 | G11778A\-F13\-III1 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; became blind at age 72 |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-III2 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-IV1 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-IV2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; visual loss onset age 18 |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-IV3 | Fam | F | N | N | A | 64 | Homo | Homo | / | Homo(F) | Healthy | Original carrier identifier: IV:8; special history: muscle complex I deficiency |
| 6 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-IV4 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 7 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-IV5 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 8 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; visual loss onset age 26 |  |
| 9 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V2 | Fam | M | Y | Y | A | 39 | Homo | Homo | / | Homo(F) | Bilateral optic atrophy; tremor; dystonia; putaminal lesions |  |
| 10 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V3 | Fam | F | N | N | A | 39 | Homo | Homo | / | Homo(F) | Peripapillary microangiopathy; no additional neurological signs |  |
| 11 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V4 | Fam | M | N | N | A | ND | Homo | Homo | / | Homo(F) | Healthy | Original carrier identifier: V:4; special history: muscle complex I deficiency |
| 12 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V5 | Fam | ND | N | N | A | 29 | Homo | Homo | / | Homo(F) | Healthy | Original carrier identifier: V:5 |
| 13 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V6 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy |  |

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