G11778A-F626

**Figure 1\. Pedigree diagram for family G11778A\-F626\.**

![](/media/202606/20260630173149340637.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\-F626 | Serbia | LHON | 2 | 1 | 2020 | [33095398](https://pubmed.ncbi.nlm.nih.gov/33095398/) | Paper family 6 |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F626 from Serbia with lhon. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was with rapid ocular course, microangiopathic brain lesions, heart valve defects, glaucoma, headache, symptomatic lhon.

# 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\-F626 | G11778A\-F626\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F626 | G11778A\-F626\-III1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F626 | G11778A\-F626\-III2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | with rapid ocular course; microangiopathic brain lesions, heart valve defects, glaucoma/headache |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F626 | G11778A\-F626\-IV1 | Fam | F | N | Y | A | ND | Homo | / | / | / | Symptomatic LHON |  |

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