G3460A-F22

**Figure 1\. Pedigree diagram for family G3460A\-F22\.**

![](/media/202606/20260630032522251235.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\-F22 | Italy | LHON\-plus | 1 | 6 | 2018 | [30591017](https://pubmed.ncbi.nlm.nih.gov/30591017/) | Haplogroup H27 |

The **m.3460G\>A** variant in MT\-ND1 was reported in family G3460A\-F22 from Italy with lhon\-plus. The pedigree record reported 1 unaffected and 6 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 6/8 listed carriers; 7/8 carriers were affected, and the main clinical manifestation among affected carriers was lhon, visual loss, blindness, onset unknown, headache, psychiatric comorbidities, optic neuritis, vertigo.

# 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\-F22 | G3460A\-F22\-I1 | Uninf | F | N | Y | A | ND | Heteroplasmic | / | / | / | LHON; visual loss; blindness; onset unknown |  |
| 2 | 3460 | m.3460G\>A | G3460A\-F22 | G3460A\-F22\-II1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; visual loss; blindness; headache; onset unknown |  |
| 3 | 3460 | m.3460G\>A | G3460A\-F22 | G3460A\-F22\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; visual loss; blindness; psychiatric comorbidities; onset unknown |  |
| 4 | 3460 | m.3460G\>A | G3460A\-F22 | G3460A\-F22\-II3 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; optic neuritis; vertigo; tremor; diplopia; onset at 30 years |  |
| 5 | 3460 | m.3460G\>A | G3460A\-F22 | G3460A\-F22\-III1 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; optic neuritis; bilateral scotoma; headache; onset at 21 years |  |
| 6 | 3460 | m.3460G\>A | G3460A\-F22 | G3460A\-F22\-III2 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; bilateral optic neuritis; monolateral scotoma left eye; blind right eye; onset at 9 years |  |
| 7 | 3460 | m.3460G\>A | G3460A\-F22 | G3460A\-F22\-III3 | Fam | F | N | N | A | ND | Heteroplasmic | / | / | / | No optic signs at ophthalmologic visit; headache |  |
| 8 | 3460 | m.3460G\>A | G3460A\-F22 | G3460A\-F22\-IV1 | Fam | F | Y | Y | A | 5 | Homo | / | / | / | Acute spinal cord lesion; no optic neuropathy; cutaneous mastocytosis | Haplogroup H27 |

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