G11778A-F305

**Figure 1\. Pedigree diagram for family G11778A\-F305\.**

![](/media/202606/20260630165133216673.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\-F305 | Brazil | LHON | ND | 33 | 2003 | [12888043](https://pubmed.ncbi.nlm.nih.gov/12888043/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F305 from Brazil with lhon. The pedigree record reported ND unaffected and 33 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was lhon, acute bilateral visual loss, central scotomas, abnormal optic disks, lhon 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\-F305 | G11778A\-F305\-II1 | Fam | F | N | N | A | 51 | Homo | / | / | / | Healthy LHON; slight optic atrophy OD | Original ID: Case M |
| 2 | 11778 | m.11778G\>A | G11778A\-F305 | G11778A\-F305\-II2 | Fam | M | Y | Y | A | 14 | Homo | / | / | / | LHON; acute bilateral visual loss; central scotomas; abnormal optic disks | Original ID: Case P |
| 3 | 11778 | m.11778G\>A | G11778A\-F305 | G11778A\-F305\-II3 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON optic neuropathy |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F305 | G11778A\-F305\-II4 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON optic neuropathy |  |

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