A3243G-F506

**Figure 1\. Pedigree diagram for family A3243G\-F506\.**

![](/media/202607/A3243G-F506-pedigree_20260701031456869050.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>G | A3243G\-F506 | Italy | MELAS with occipital epilepsy and status epilepticus | 1 | 1 | 2009 | [19589463](https://pubmed.ncbi.nlm.nih.gov/19589463/) | Mother and brother are qualitative A3243G\-positive; no tissue or numerical load reported for them. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F506 from Italy with melas with occipital epilepsy and status epilepticus. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was melas with occipital seizures since age 10, status epilepticus, severe headaches, visual hallucinations, and transient right occipital stroke\-like lesion, partial occipital epilepsy from age 5 and mild language delay.

# 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 | 3243 | m.3243A\>G | A3243G\-F506 | A3243G\-F506\-P1 | Fam | M | Y | Y | A | 19 | 20% | 40% | / | / | MELAS with occipital seizures since age 10, status epilepticus, severe headaches, visual hallucinations, and transient right occipital stroke\-like lesion | PCR fragment\-length polymorphism analysis identified heteroplasmic A3243G in muscle and peripheral blood lymphocytes. |
| 2 | 3243 | m.3243A\>G | A3243G\-F506 | A3243G\-F506\-P2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Mother harbored the same A3243G mutation as the patient; exact tissue and heteroplasmy load not reported; Clinically free/asymptomatic; vastus lateralis muscle biopsy normal |
| 3 | 3243 | m.3243A\>G | A3243G\-F506 | A3243G\-F506\-P3 | Fam | M | N | Y | A | 5 (onset) | / | / | / | / | Partial occipital epilepsy from age 5 and mild language delay | Brother harbored the same A3243G mutation as the patient; exact tissue and heteroplasmy load not reported. |

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