A3243G-F520

**Figure 1\. Pedigree diagram for family A3243G\-F520\.**

![](/media/202607/A3243G-F520-pedigree_20260701031537126485.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\-F520 | Japan | MELAS with endothelial tight\-junction disruption | 1 | 0 | 2010 | [20799154](https://pubmed.ncbi.nlm.nih.gov/20799154/) | Proband plus asymptomatic A3243G\-positive mother. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F520 from Japan with melas with endothelial tight\-junction disruption. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was melas, fatigability, transient inability to walk with febrile illness, elevated lactate, pyruvate, ragged\-red fibers, cox low activity, stroke\-like episode.

# 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\-F520 | A3243G\-F520\-P1 | Fam | F | Y | Y | D | 5 yr 1 mo; autopsy 13 yr 6 mo | / | / | / | / | MELAS; Fatigability, transient inability to walk with febrile illness, elevated lactate/pyruvate, ragged\-red fibers, COX low activity, stroke\-like episode, endothelial tight\-junction disruption | A3243G confirmed in biopsied quadriceps muscle; load not reported. |
| 2 | 3243 | m.3243A\>G | A3243G\-F520 | A3243G\-F520\-P2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Mother proved to have asymptomatic mtDNA A3243G mutation; tissue and load not reported; Healthy |

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