G3460A-F2

**Figure 1\. Pedigree diagram for family G3460A\-F2\.**

![](/media/202606/20260630032136153735.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\-F2 | Italy | LHON\-plus | 0 | 1 | 2008 | [18216301](https://pubmed.ncbi.nlm.nih.gov/18216301/) |  |

The **m.3460G\>A** variant in MT\-ND1 was reported in family G3460A\-F2 from Italy with lhon\-plus. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was lhon\-plus, onset at 10 years.

# 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\-F2 | G3460A\-F2\-IV1 | Fam | M | Y | Y | A | 30 | Homo | Homo | / | / | LHON\-plus, onset at 10 years |  |
| 2 | 3460 | m.3460G\>A | G3460A\-F2 | G3460A\-F2\-IV2 | Fam | M | N | Y | A | ND | Homo | Homo | / | / | LHON\-plus |  |

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