G11778A-F365

**Figure 1\. Pedigree diagram for family G11778A\-F365\.**

![](/media/202606/20260630170542953164.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\-F365 | China | LHON | 4 | 4 | 2010 | [20435583](https://pubmed.ncbi.nlm.nih.gov/20435583/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F365 from China with lhon. The pedigree record reported 4 unaffected and 4 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in all listed carriers; 5/9 carriers were affected, and the main clinical manifestation among affected carriers was lhon, visual impairment, profoundly impaired vision, severely impaired vision, bilateral visual deterioration, va 0\.01, 0\.04, centrocecal scotomata.

# 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\-F365 | G11778A\-F365\-II1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ49\-II1 |
| 2 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-I1 | Uninf | F | N | Y | A | ND | Homo | / | / | / | LHON; visual impairment | Original carrier identifier: WZ49\-I2 |
| 3 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-II2 | Fam | F | N | Y | A | 30 | Homo | / | / | / | LHON; profoundly impaired vision | Original carrier identifier: WZ49\-II4 |
| 4 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-III1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ49\-III4 |
| 5 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-III2 | Fam | F | N | Y | A | 17 | Homo | / | / | / | LHON; severely impaired vision | Original carrier identifier: WZ49\-III5 |
| 6 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-II3 | Fam | F | N | Y | A | 32 | Homo | / | / | / | LHON; severely impaired vision | Original carrier identifier: WZ49\-II6 |
| 7 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-III3 | Fam | F | Y | Y | A | 19 | Homo | / | / | / | LHON; bilateral visual deterioration, VA 0\.01/0\.04, centrocecal scotomata, abnormal optic discs | Original carrier identifier: WZ49\-III6 |
| 8 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-III4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ49\-III7 |
| 9 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-III5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ49\-III8 |

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