G3890A-F5

**Figure 1\. Pedigree diagram for family G3890A\-F5\.**

![](/media/202606/20260630033942125942.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\-F5 | USA | LHON | 3 | 0 | 2021 | [34390870](https://pubmed.ncbi.nlm.nih.gov/34390870/) |  |

The **m.3890G\>A** variant in MT\-ND1 was reported in family G3890A\-F5 from USA with lhon. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was lhon with onset at 15 years and partial visual recovery.

# 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\-F5 | G3890A\-F5\-I1 | Uninf | F | N | N | A | 44 | 13\.1% | / | / | / | Healthy |  |
| 2 | 3890 | m.3890G\>A | G3890A\-F5 | G3890A\-F5\-II1 | Fam | M | Y | Y | A | 17 | 67\.1% | / | / | / | LHON with onset at 15 years and partial visual recovery |  |
| 3 | 3890 | m.3890G\>A | G3890A\-F5 | G3890A\-F5\-II2 | Fam | M | N | N | A | 14 | 7\.9% | / | / | / | Healthy |  |
| 4 | 3890 | m.3890G\>A | G3890A\-F5 | G3890A\-F5\-II3 | Fam | F | N | N | A | 10 | 2\.5% | / | / | / | Healthy |  |

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