A3395G-F2

**Figure 1\. Pedigree diagram for family A3395G\-F2\.**

![](/media/202606/20260630031315215943.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3395 | m.3395A\>G | A3395G\-F2 | Denmark/Greenland | LHON | 2 | 0 | 2017 | [28139165](https://pubmed.ncbi.nlm.nih.gov/28139165/) |  |

The **m.3395A\>G** variant in MT\-ND1 was reported in family A3395G\-F2 from Denmark/Greenland 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 epilepsy and mild cognitive features.

# 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 | 3395 | m.3395A\>G | A3395G\-F2 | A3395G\-F2\-I1 | Uninf | F | N | N | A | 51 | Homo | / | / | / | No visual disorder |  |
| 2 | 3395 | m.3395A\>G | A3395G\-F2 | A3395G\-F2\-II1 | Fam | F | Y | Y | A | 30 | Homo | Homo | / | / | LHON with epilepsy and mild cognitive features |  |
| 3 | 3395 | m.3395A\>G | A3395G\-F2 | A3395G\-F2\-II2 | Fam | F | N | N | A | 24 | Homo | / | / | / | No visual disorder |  |

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