A3243G-F35

**Figure 1\. Pedigree diagram for family A3243G\-F35\.**

![](/media/202607/A3243G-F35-pedigree_20260701030744459599.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\-F35 | Japan | MELAS and maternal\-line mitochondrial encephalomyopathy features | 0 | 2 | 1992 | [1405464](https://pubmed.ncbi.nlm.nih.gov/1405464/) | Paper family 3 |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F35 from Japan with melas and maternal\-line mitochondrial encephalomyopathy features. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was typical melas with muscle weakness, seizures, dementia, episodic vomiting, cortical blindness, hemiparesis, hemianopsia, hearing loss.

# 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\-F35 | A3243G\-F35\-P1 | Fam | ND | Y | Y | A | 6 | 70% | 68% | / | / | Typical MELAS with muscle weakness, seizures, dementia, episodic vomiting, cortical blindness, hemiparesis/hemianopsia, hearing loss, lactic acidosis, low CT density and RRF | Paper family 3 proband |
| 2 | 3243 | m.3243A\>G | A3243G\-F35 | A3243G\-F35\-P2 | Fam | F | N | Y | A | 34 | 9% | / | / | / | Mother with clinical abnormalities in the family table, including dementia/short stature and lactic acidosis\-related findings. | Paper family 3 mother; Mother with clinical abnormalities in the family table, including dementia/short stature and lactic acidosis\-related findings |
| 3 | 3243 | m.3243A\>G | A3243G\-F35 | A3243G\-F35\-P3 | Fam | F | N | Y | A | 38 | 18% | / | / | / | Maternal aunt with clinical abnormalities in Table 1, including muscle weakness/short stature/hearing loss and lactic acidosis\-related findings. | Paper family 3 maternal relative; Maternal aunt with clinical abnormalities in Table 1, including muscle weakness/short stature/hearing loss and lactic acidosis\-related findings |

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