G11778A-F566

**Figure 1\. Pedigree diagram for family G11778A\-F566\.**

![](/media/202606/20260630172214279172.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\-F566 | Taiwan | LHON; juvenile open\-angle glaucoma | 3 | 1 | 2018 | [30558558](https://pubmed.ncbi.nlm.nih.gov/30558558/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F566 from Taiwan with lhon; juvenile open\-angle glaucoma. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was joag and 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\-F566 | G11778A\-F566\-I1 | Uninf | F | N | N | A | 38 | / | / | / | / | Healthy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F566 | G11778A\-F566\-II1 | Fam | M | Y | Y | A | 16 | / | / | / | / | JOAG and LHON | Original ID: Patient 1 |
| 3 | 11778 | m.11778G\>A | G11778A\-F566 | G11778A\-F566\-II2 | Fam | M | N | Y | A | 15 | / | / | / | / | JOAG and LHON | Original ID: Patient 2 |
| 4 | 11778 | m.11778G\>A | G11778A\-F566 | G11778A\-F566\-II3 | Fam | M | N | N | A | 14 | / | / | / | / | Healthy |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F566 | G11778A\-F566\-II4 | Fam | F | N | N | A | 9 | / | / | / | / | Healthy |  |

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