A12033G-F1

**Figure 1\. Pedigree diagram for family A12033G\-F1\.**

![](/media/202606/20260630154403782849.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12033 | m.12033A\>G | A12033G\-F1 | Italy | LHON | 2 | 0 | 2018 | [29444077](https://pubmed.ncbi.nlm.nih.gov/29444077/) | Coexisting variants: m.10680G\>A, m.14258G\>A; Paper family 2 |

The **m.12033A\>G** variant in MT\-ND4 was reported in family A12033G\-F1 from Italy with lhon. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 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 | 12033 | m.12033A\>G | A12033G\-F1 | A12033G\-F1\-III1 | Fam | F | N | N | A | ND | / | / | / | Homo(ND) | Healthy |  |
| 2 | 12033 | m.12033A\>G | A12033G\-F1 | A12033G\-F1\-IV1 | Fam | F | N | N | A | ND | / | / | / | Homo(ND) | Healthy |  |
| 3 | 12033 | m.12033A\>G | A12033G\-F1 | A12033G\-F1\-IV2 | Fam | M | Y | Y | A | ND | / | / | / | Homo(ND) | LHON | Coexisting variants: m.10680G\>A, m.14258G\>A |

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