G4412A-F1

**Figure 1\. Pedigree diagram for family G4412A\-F1\.**

![](/media/202607/20260721235652457242.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4412 | m.4412G\>A | G4412A\-F1 | UK | Seizures with myopathy \& retinopathy;Seizures | 3 | 1 | 2019 | [31022467](https://pubmed.ncbi.nlm.nih.gov/31022467/); [34089906](https://pubmed.ncbi.nlm.nih.gov/34089906/) |  |

The **m.4412G\>A** variant in MT\-TM was reported in family G4412A\-F1 from UK with seizures with myopathy \& retinopathy;seizures. The pedigree record reported 3 unaffected and 1 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 generalised status epilepticus for more than 2 h.

# 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 | 4412 | m.4412G\>A | G4412A\-F1 | G4412A\-F1\-I2 | Uninf | F | N | N | A | ND | 0% | / | 0% | 0%(BM) | Healthy |  |
| 2 | 4412 | m.4412G\>A | G4412A\-F1 | G4412A\-F1\-II1 | De novo | F | Y | Y | A | 16 | 0% | 90% | 7% | 6%(BM) | Generalised status epilepticus for more than 2 h |  |
| 3 | 4412 | m.4412G\>A | G4412A\-F1 | G4412A\-F1\-II2 | Uninf | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 4412 | m.4412G\>A | G4412A\-F1 | G4412A\-F1\-II3 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |

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