G11778A-F342

**Figure 1\. Pedigree diagram for family G11778A\-F342\.**

![](/media/202606/20260630170118056418.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\-F342 | China | LHON | 19 | 9 | 2007 | [17300996](https://pubmed.ncbi.nlm.nih.gov/17300996/) | Coexisting variant: coexisting G11696A |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F342 from China with lhon. The pedigree record reported 19 unaffected and 9 affected maternal relatives, and the carrier table includes 25 listed carriers. Homoplasmy was reported in all listed carriers; 10/25 carriers were affected, and the main clinical manifestation among affected carriers was lhon, profound visual loss, mild visual loss, moderate visual loss, severe visual loss.

# 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\-F342 | G11778A\-F342\-II1 | Fam | F | N | N | ND | 70 | Homo | / | / | / | Healthy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III1 | Fam | F | N | N | ND | 65 | Homo | / | / | / | Healthy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III2 | Fam | F | N | Y | ND | 62 | Homo | / | / | / | LHON; profound visual loss |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III3 | Fam | M | N | N | ND | 55 | Homo | / | / | / | Healthy |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III4 | Fam | F | N | Y | ND | 54 | Homo | / | / | / | LHON; profound visual loss |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III5 | Fam | M | N | N | ND | 50 | Homo | / | / | / | Healthy |  |
| 7 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III6 | Fam | F | N | N | ND | 37 | Homo | / | / | / | Healthy |  |
| 8 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III7 | Fam | F | N | N | ND | 50 | Homo | / | / | / | Healthy |  |
| 9 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III8 | Fam | M | N | N | ND | 41 | Homo | / | / | / | Healthy |  |
| 10 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III9 | Fam | F | N | N | ND | 38 | Homo | / | / | / | Healthy |  |
| 11 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III10 | Fam | M | N | Y | ND | 35 | Homo | / | / | / | LHON; profound visual loss |  |
| 12 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV1 | Fam | M | N | Y | ND | 40 | Homo | / | / | / | LHON; mild visual loss |  |
| 13 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV2 | Fam | M | N | N | ND | 38 | Homo | / | / | / | Healthy |  |
| 14 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV3 | Fam | M | Y | Y | ND | 33 | Homo | / | / | / | LHON; moderate visual loss |  |
| 15 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV4 | Fam | M | N | N | ND | 33 | Homo | / | / | / | Healthy |  |
| 16 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV5 | Fam | M | N | Y | ND | 43 | Homo | / | / | / | LHON; mild visual loss |  |
| 17 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV6 | Fam | M | N | Y | ND | 40 | Homo | / | / | / | LHON; profound visual loss |  |
| 18 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV7 | Fam | F | N | N | ND | 36 | Homo | / | / | / | Healthy |  |
| 19 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV8 | Fam | F | N | Y | ND | 33 | Homo | / | / | / | LHON; mild visual loss |  |
| 20 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV9 | Fam | M | N | Y | ND | 29 | Homo | / | / | / | LHON; severe visual loss |  |
| 21 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV10 | Fam | F | N | N | ND | 26 | Homo | / | / | / | Healthy |  |
| 22 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV11 | Fam | M | N | N | ND | 11 | Homo | / | / | / | Healthy |  |
| 23 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV12 | Fam | M | N | Y | ND | 28 | Homo | / | / | / | LHON; profound visual loss |  |
| 24 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV13 | Fam | F | N | N | ND | 26 | Homo | / | / | / | Healthy |  |
| 25 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV14 | Fam | M | N | N | ND | 11 | Homo | / | / | / | Healthy |  |

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