G11778A-F369

**Figure 1\. Pedigree diagram for family G11778A\-F369\.**

![](/media/202606/20260630170644461312.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\-F369 | China | LHON | 6 | 7 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F369 from China with lhon. The pedigree record reported 6 unaffected and 7 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 8/8 carriers were affected, and the main clinical manifestation among affected carriers was lhon, severe visual impairment, visual impairment, bilateral visual acuity 0\.04, centrocecal scotoma, profound visual loss, moderate 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\-F369 | G11778A\-F369\-I1 | Uninf | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-II1 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; visual impairment |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-II2 | Fam | F | Y | Y | ND | 38 | Near homoplasmy | / | / | / | LHON; severe visual impairment; bilateral visual acuity 0\.04; centrocecal scotoma |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-II3 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-III1 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual loss |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-III2 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; moderate visual impairment |  |
| 7 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-III3 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; visual impairment |  |
| 8 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-III4 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual loss |  |

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