A3243G-F265

**Figure 1\. Pedigree diagram for family A3243G\-F265\.**

![](/media/202607/A3243G-F265-pedigree_20260701030246142776.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\-F265 | United States | Adult\-onset MELAS presenting after herpes encephalitis\-like episode | 2 | 0 | 1999 | [10025431](https://pubmed.ncbi.nlm.nih.gov/10025431/) | / |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F265 from United States with adult\-onset melas presenting after herpes encephalitis\-like episode. 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 adult\-onset melas with aphasia, delirium, recurrent stroke\-like episodes, seizures, cortical blindness, dementia, hearing loss, elevated lactate.

# 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\-F265 | A3243G\-F265\-I1 | Uninf | F | Y | Y | D | 60 | / | / | / | / | Adult\-onset MELAS with aphasia/delirium, recurrent stroke\-like episodes, seizures, cortical blindness/dementia, hearing loss, elevated lactate; Died March 1997 | Original report: proband. |
| 2 | 3243 | m.3243A\>G | A3243G\-F265 | A3243G\-F265\-II1 | Fam | F | N | N | A | late 30s | / | / | / | / | Healthy | Original report: daughter 1; Healthy |
| 3 | 3243 | m.3243A\>G | A3243G\-F265 | A3243G\-F265\-II2 | Fam | F | N | N | A | late 30s | / | / | / | / | Healthy | Original report: daughter 2; Healthy |

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