G3460A-F1

**Figure 1\. Pedigree diagram for family G3460A\-F1\.**

![](/media/202606/20260630032119830438.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\-F1 | Italy | LHON | 10 | 3 | 2002 | [12023431](https://pubmed.ncbi.nlm.nih.gov/12023431/) | Supplemental evidence PMID 17652639\. |

The **m.3460G\>A** variant in MT\-ND1 was reported in family G3460A\-F1 from Italy with lhon. The pedigree record reported 10 unaffected and 3 affected maternal relatives, and the carrier table includes 14 listed carriers. Homoplasmy was reported in 8/14 listed carriers; 4/14 carriers were affected, and the main clinical manifestation among affected carriers was lhon, onset at 18 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\-F1 | G3460A\-F1\-III1 | Fam | F | N | N | A | 56 | 56% | / | 24% | 36% (leukocytes) | Healthy |  |
| 2 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-IV1 | Fam | M | Y | Y | A | 33 | Homo | Homo | Homo | Homo (leukocytes/platelets/liver) | LHON; onset at 18 years |  |
| 3 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-IV2 | Fam | F | N | N | A | 25 | Homo | Homo | Homo | / | Healthy |  |
| 4 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-IV3 | Fam | F | N | N | A | 25 | Homo | / | Homo | / | Healthy |  |
| 5 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-III3 | Fam | F | N | Y | A | 64 | Homo | / | / | / | LHON |  |
| 6 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-III5 | Fam | M | N | N | A | 60 | 22% | / | / | / | Healthy |  |
| 7 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-III7 | Fam | M | N | N | A | 55 | 19% | / | / | / | Healthy |  |
| 8 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-III8 | Fam | M | N | N | A | 46 | 17% | / | / | / | Healthy |  |
| 9 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-III9 | Fam | M | N | N | A | 45 | Homo | / | / | / | Healthy |  |
| 10 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-III21 | Fam | F | N | Y | A | 73 | Homo | / | / | / | LHON |  |
| 11 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-IV7 | Fam | F | N | N | A | 46 | 66% | / | / | / | Healthy |  |
| 12 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-V1 | Fam | F | N | N | A | 26 | 74% | / | / | / | Healthy |  |
| 13 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-V2 | Fam | M | N | N | A | 20 | Homo | / | / | / | Healthy |  |
| 14 | 3460 | m.3460G\>A | G3460A\-F1 | G3460A\-F1\-V3 | Fam | M | N | Y | A | 17 | Homo | / | / | / | LHON |  |

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