G3460A-F5

**Figure 1\. Pedigree diagram for family G3460A\-F5\.**

![](/media/202606/20260630032202733220.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3460 | m.3460G\>A | G3460A\-F5 | Italy | LHON | 7 | 0 | 2018 | [30053855](https://pubmed.ncbi.nlm.nih.gov/30053855/) |  |

The **m.3460G\>A** variant in MT\-ND1 was reported in family G3460A\-F5 from Italy with lhon. The pedigree record reported 7 unaffected and 0 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 5/8 listed carriers; 1/8 carriers were affected, and the main clinical manifestation among affected carriers was 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 | 3460 | m.3460G\>A | G3460A\-F5 | G3460A\-F5\-I2 | Uninf | F | N | N | A | ND | 30% | / | / | / | Healthy |  |
| 2 | 3460 | m.3460G\>A | G3460A\-F5 | G3460A\-F5\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 3460 | m.3460G\>A | G3460A\-F5 | G3460A\-F5\-II3 | Fam | F | N | N | A | ND | 40% | / | / | / | Healthy |  |
| 4 | 3460 | m.3460G\>A | G3460A\-F5 | G3460A\-F5\-II5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 5 | 3460 | m.3460G\>A | G3460A\-F5 | G3460A\-F5\-III1 | Fam | M | Y | Y | A | 17 | Homo | / | / | / | LHON |  |
| 6 | 3460 | m.3460G\>A | G3460A\-F5 | G3460A\-F5\-III2 | Fam | M | N | N | A | ND | Homo | / | / | / | No reported visual loss |  |
| 7 | 3460 | m.3460G\>A | G3460A\-F5 | G3460A\-F5\-III3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 8 | 3460 | m.3460G\>A | G3460A\-F5 | G3460A\-F5\-III4 | Fam | M | N | N | A | ND | 40% | / | / | / | Healthy |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).