G11778A-F118

**Figure 1\. Pedigree diagram for family G11778A\-F118\.**

![](/media/202606/20260630163414914077.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\-F118 | Finland | Leber hereditary optic neuroretinopathy | ND | ND | 1994 | [8270249](https://pubmed.ncbi.nlm.nih.gov/8270249/) | Paper family 3 |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F118 from Finland with leber hereditary optic neuroretinopathy. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 2/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was optic atrophy.

# 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\-F118 | G11778A\-F118\-I1 | Uninf | F | N | ND | ND | ND | 98\.5% | / | / | / | ND |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F118 | G11778A\-F118\-II1 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | Optic atrophy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F118 | G11778A\-F118\-II2 | Fam | F | N | ND | ND | ND | Homo | / | / | / | ND |  |

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