G11778A-F100

**Figure 1\. Pedigree diagram for family G11778A\-F100\.**

![](/media/202606/20260630163055457474.png)

|  |
| --- |

# 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\-F100 | Germany | LHON | ND | ND | 1994 | [7977345](https://pubmed.ncbi.nlm.nih.gov/7977345/) | Paper family 3 |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F100 from Germany with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was lhon, clinically affected.

# 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\-F100 | G11778A\-F100\-I1 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F100 | G11778A\-F100\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F100 | G11778A\-F100\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F100 | G11778A\-F100\-III1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; clinically affected |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F100 | G11778A\-F100\-III2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; clinically affected |  |

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