G11778A-F332

**Figure 1\. Pedigree diagram for family G11778A\-F332\.**

![](/media/202606/20260630165745484562.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\-F332 | China | LHON | 4 | 5 | 2006 | [16624503](https://pubmed.ncbi.nlm.nih.gov/16624503/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F332 from China with lhon. The pedigree record reported 4 unaffected and 5 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in all listed carriers; 6/10 carriers were affected, and the main clinical manifestation among affected carriers was lhon, mild visual impairment, moderate visual impairment, severe visual impairment, profound 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\-F332 | G11778A\-F332\-I1 | Uninf | F | N | N | ND | 65 | Homo | / | / | / | Healthy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-II1 | Fam | F | N | Y | ND | 45 | Homo | / | / | / | LHON; mild visual impairment |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-II2 | Fam | F | N | Y | ND | 38 | Homo | / | / | / | LHON; moderate visual impairment |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-II3 | Fam | F | N | N | ND | 34 | Homo | / | / | / | Healthy |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-II4 | Fam | M | Y | Y | ND | 39 | Homo | / | / | / | LHON; moderate visual impairment |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-II5 | Fam | M | N | Y | ND | 37 | Homo | / | / | / | LHON; severe visual impairment |  |
| 7 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-III1 | Fam | M | N | Y | ND | 23 | Homo | / | / | / | LHON; profound visual impairment |  |
| 8 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-III2 | Fam | F | N | N | ND | 18 | Homo | / | / | / | Healthy |  |
| 9 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-III3 | Fam | M | N | Y | ND | 20 | Homo | / | / | / | LHON; severe visual impairment |  |
| 10 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-III4 | Fam | F | N | N | ND | 12 | Homo | / | / | / | Healthy |  |

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