G11778A-F312

**Figure 1\. Pedigree diagram for family G11778A\-F312\.**

![](/media/202606/20260630165252360349.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\-F312 | China | LHON | 32 | 6 | 2005 | [15707996](https://pubmed.ncbi.nlm.nih.gov/15707996/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F312 from China with lhon. The pedigree record reported 32 unaffected and 6 affected maternal relatives, and the carrier table includes 27 listed carriers. Homoplasmy was reported in all listed carriers; 6/27 carriers were affected, and the main clinical manifestation among affected carriers was lhon, profound visual impairment, mild visual impairment, moderate visual impairment, severe 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\-F312 | G11778A\-F312\-II1 | Fam | F | N | N | A | 62 | Homo | / | / | / | Healthy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III1 | Fam | F | N | N | A | 35 | Homo | / | / | / | Healthy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III2 | Fam | M | Y | Y | A | 22 | Homo | / | / | / | LHON; profound visual impairment |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III3 | Fam | F | N | N | A | 39 | Homo | / | / | / | Healthy |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III4 | Fam | F | N | N | A | 33 | Homo | / | / | / | Healthy |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III5 | Fam | M | N | N | A | 41 | Homo | / | / | / | Healthy |  |
| 7 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III6 | Fam | M | N | Y | A | 37 | Homo | / | / | / | LHON; mild visual impairment |  |
| 8 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III7 | Fam | M | N | Y | A | 31 | Homo | / | / | / | LHON; mild visual impairment |  |
| 9 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III8 | Fam | F | N | N | A | 30 | Homo | / | / | / | Healthy |  |
| 10 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III9 | Fam | M | N | Y | A | 32 | Homo | / | / | / | LHON; moderate visual impairment |  |
| 11 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III10 | Fam | M | N | N | A | 14 | Homo | / | / | / | Healthy |  |
| 12 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III11 | Fam | M | N | N | A | 42 | Homo | / | / | / | Healthy |  |
| 13 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III12 | Fam | M | N | Y | A | 32 | Homo | / | / | / | LHON; moderate visual impairment |  |
| 14 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III13 | Fam | F | N | N | A | 29 | Homo | / | / | / | Healthy |  |
| 15 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III14 | Fam | F | N | N | A | 54 | Homo | / | / | / | Healthy |  |
| 16 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III15 | Fam | M | N | N | A | 25 | Homo | / | / | / | Healthy |  |
| 17 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV1 | Fam | M | N | N | A | 16 | Homo | / | / | / | Healthy |  |
| 18 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV2 | Fam | M | N | N | A | 18 | Homo | / | / | / | Healthy |  |
| 19 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV3 | Fam | M | N | N | A | 20 | Homo | / | / | / | Healthy |  |
| 20 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV4 | Fam | M | N | N | A | 12 | Homo | / | / | / | Healthy |  |
| 21 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV5 | Fam | M | N | N | A | 15 | Homo | / | / | / | Healthy |  |
| 22 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV6 | Fam | M | N | Y | A | 30 | Homo | / | / | / | LHON; severe visual impairment |  |
| 23 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV7 | Fam | F | N | N | A | 35 | Homo | / | / | / | Healthy |  |
| 24 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV8 | Fam | F | N | N | A | 28 | Homo | / | / | / | Healthy |  |
| 25 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV9 | Fam | F | N | N | A | 35 | Homo | / | / | / | Healthy |  |
| 26 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-V1 | Fam | M | N | N | A | 10 | Homo | / | / | / | Healthy |  |
| 27 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-V2 | Fam | F | N | N | A | 16 | Homo | / | / | / | Healthy |  |

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