G3890A-F4

**Figure 1\. Pedigree diagram for family G3890A\-F4\.**

![](/media/202606/20260630033917875585.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3890 | m.3890G\>A | G3890A\-F4 | Italy | LHON | 0 | 1 | 2021 | [34390870](https://pubmed.ncbi.nlm.nih.gov/34390870/) |  |

The **m.3890G\>A** variant in MT\-ND1 was reported in family G3890A\-F4 from Italy with lhon. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was classical lhon, lhon\-like bilateral vision loss at 12 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 | 3890 | m.3890G\>A | G3890A\-F4 | G3890A\-F4\-I1 | Uninf | F | Y | Y | A | 65 | 26\.6% | / | 82\.7% | / | Classical LHON |  |
| 2 | 3890 | m.3890G\>A | G3890A\-F4 | G3890A\-F4\-II1 | Fam | F | N | Y | A | 35 | 43\.9% | / | / | / | LHON\-like bilateral vision loss at 12 years |  |

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