G11778A-F588

**Figure 1\. Pedigree diagram for family G11778A\-F588\.**

![](/media/202606/20260630172355254165.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\-F588 | Poland | LHON | 2 | 2 | 2019 | [31584786](https://pubmed.ncbi.nlm.nih.gov/31584786/) | Coexisting variant: G3460A |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F588 from Poland with lhon. The pedigree record reported 2 unaffected and 2 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 6/8 carriers were affected, and the main clinical manifestation among affected carriers was lhon, deterioration of vision at age 27, left then right, optic disc pallor, vessel narrowing, optic nerve degeneration, right\-eye vision loss at age 20, second eye six months later.

# 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\-F588 | G11778A\-F588\-II1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Original carrier identifier: II\-1 |
| 2 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III1 | Fam | M | N | Y | A | 27 | / | / | / | / | LHON; deterioration of vision at age 27, left then right; optic disc pallor, vessel narrowing, optic nerve degeneration | Original carrier identifier: III\-1 |
| 3 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III2 | Fam | M | N | Y | A | 20 | / | / | / | / | LHON; right\-eye vision loss at age 20, second eye six months later | Original carrier identifier: III\-2 |
| 4 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III3 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; sudden sequential vision loss before age 26; exact age unknown | Original carrier identifier: III\-3 |
| 5 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III4 | Fam | M | N | Y | A | 25 | / | / | / | / | LHON; sight loss onset at age 25 | Original carrier identifier: III\-4 |
| 6 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Original carrier identifier: III\-5 |
| 7 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III6 | Fam | M | N | Y | A | 20 | / | / | / | / | LHON; sudden vision loss at age 20; optic disc pallor, vessel narrowing, optic nerve degeneration | Original carrier identifier: III\-6 |
| 8 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III7 | Fam | M | N | Y | A | 36 | / | / | / | / | LHON; sight loss at age 36, right eye then left eye | Original carrier identifier: III\-7 |

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