G11778A-F370

**Figure 1\. Pedigree diagram for family G11778A\-F370\.**

![](/media/202606/20260630170711502530.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\-F370 | China | LHON | 22 | 11 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F370 from China with lhon. The pedigree record reported 22 unaffected and 11 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in 0/12 listed carriers; 12/12 carriers were affected, and the main clinical manifestation among affected carriers was lhon, profound visual impairment, severe visual impairment, moderate visual impairment, visual acuity 0\.01 right and 0\.3 left.

# 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\-F370 | G11778A\-F370\-II1 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-II2 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-II3 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III1 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III2 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III3 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment |  |
| 7 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III4 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment |  |
| 8 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III5 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment |  |
| 9 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III6 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment |  |
| 10 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-IV1 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; moderate visual impairment |  |
| 11 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-IV2 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; moderate visual impairment |  |
| 12 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-IV3 | Fam | M | Y | Y | ND | 24 | Near homoplasmy | / | / | / | LHON; severe visual impairment; visual acuity 0\.01 right and 0\.3 left |  |

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