G3460A-F18

**Figure 1\. Pedigree diagram for family G3460A\-F18\.**

![](/media/202606/20260630032443735022.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\-F18 | China | LHON | 7 | 2 | 2010 | [20232220](https://pubmed.ncbi.nlm.nih.gov/20232220/) | Le1027; haplogroup M12a; homoplasmic G3460A in proband. |

The **m.3460G\>A** variant in MT\-ND1 was reported in family G3460A\-F18 from China with lhon. The pedigree record reported 7 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 1/3 listed carriers; 3/3 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\-F18 | G3460A\-F18\-II1 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Affected in Fig.1; individual mutation load not reported. |
| 2 | 3460 | m.3460G\>A | G3460A\-F18 | G3460A\-F18\-III2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | Proband; complete mtDNA sequenced. |
| 3 | 3460 | m.3460G\>A | G3460A\-F18 | G3460A\-F18\-III5 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Affected in Fig.1; individual mutation load not reported. |

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