G4516A-F1

**Figure 1\. Pedigree diagram for family G4516A\-F1\.**

![](/media/202607/G4516A-F1-pedigree_20260701020700311126.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4516 | m.4516G\>A | G4516A\-F1 | Serbia | LHON | 2 | 0 | 2020 | [31743754](https://pubmed.ncbi.nlm.nih.gov/31743754/) |  |

The **m.4516G\>A** variant in MT\-ND2 was reported in family G4516A\-F1 from Serbia with lhon. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was lhon with vertigo, gait instability, and postural hand tremor.

# 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 | 4516 | m.4516G\>A | G4516A\-F1 | G4516A\-F1\-III1 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 4516 | m.4516G\>A | G4516A\-F1 | G4516A\-F1\-IV1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 4516 | m.4516G\>A | G4516A\-F1 | G4516A\-F1\-IV2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON with vertigo, gait instability, and postural hand tremor |  |

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