G11778A-F93

**Figure 1\. Pedigree diagram for family G11778A\-F93\.**

![](/media/202606/20260630163036441088.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\-F93 | USA | LHON | 2 | 1 | 1994 | [7801223](https://pubmed.ncbi.nlm.nih.gov/7801223/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F93 from USA with lhon. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was bilateral optic nerve disease, bilateral cecocentral scotomas, optic disk pallor.

# 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\-F93 | G11778A\-F93\-II1 | Fam | F | Y | Y | A | 19 | / | / | / | / | Bilateral optic nerve disease; bilateral cecocentral scotomas; optic disk pallor | Original carrier identifier: index case |
| 2 | 11778 | m.11778G\>A | G11778A\-F93 | G11778A\-F93\-I1 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F93 | G11778A\-F93\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |

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