G11778A-F343

**Figure 1\. Pedigree diagram for family G11778A\-F343\.**

![](/media/202606/20260630170223488273.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\-F343 | Italy | LHON | 3 | 0 | 2007 | [17366829](https://pubmed.ncbi.nlm.nih.gov/17366829/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F343 from Italy with lhon. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was lhon, acute, subacute bilateral central visual loss, optic neuropathy.

# 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\-F343 | G11778A\-F343\-III1 | Fam | M | Y | Y | A | 27 | Homo | / | / | / | LHON; acute/subacute bilateral central visual loss; optic neuropathy | Occupational n\-hexane/toluene/organic solvent exposure and moderate smoking were reported as possible triggers; exposure history is non\-clinical and was removed from Clinical Features |
| 2 | 11778 | m.11778G\>A | G11778A\-F343 | G11778A\-F343\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F343 | G11778A\-F343\-III2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F343 | G11778A\-F343\-III3 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |

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