G11778A-F328

**Figure 1\. Pedigree diagram for family G11778A\-F328\.**

![](/media/202606/20260630165518544849.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\-F328 | Central America | LHON | ND | ND | 2004 | [16120371](https://pubmed.ncbi.nlm.nih.gov/16120371/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F328 from Central America with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in 1/10 listed carriers; 1/10 carriers were affected, and the main clinical manifestation among affected carriers was lhon, bilateral optic atrophy, central scotomas, severe visual loss.

# 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\-F328 | G11778A\-F328\-II1 | Fam | F | N | N | ND | 10 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-10 |
| 2 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II2 | Fam | M | N | N | ND | 13 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-13 |
| 3 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II3 | Fam | F | N | N | ND | 18 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-18 |
| 4 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II4 | Fam | F | N | N | ND | 20 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-20 |
| 5 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II5 | Fam | F | N | N | ND | 23 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-23 |
| 6 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II6 | Fam | F | N | N | ND | 25 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-25 |
| 7 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II7 | Fam | M | N | N | ND | 31 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-31 |
| 8 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II8 | Fam | M | N | N | ND | 33 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-33 |
| 9 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II9 | Fam | M | Y | Y | A | 34 | Homo | / | / | Homo(H) | LHON; bilateral optic atrophy; central scotomas; severe visual loss | Original carrier identifier: Propositus\-34 |
| 10 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II10 | Fam | F | N | N | ND | 52 | / | / | / | Homo(H) | Healthy |  |

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