A3243G-F48

**Figure 1\. Pedigree diagram for family A3243G\-F48\.**

![](/media/202607/A3243G-F48-pedigree_20260701031422056782.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\-F48 | Japan | MELAS | 5 | 0 | 1992 | [1539604](https://pubmed.ncbi.nlm.nih.gov/1539604/) | Figure 1 Pedigree C; includes Individual14 as eligible negative\-tested maternal\-line transmission record. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F48 from Japan with melas. The pedigree record reported 5 unaffected and 0 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 1/6 carriers were affected, and the main clinical manifestation among affected carriers was melas patient.

# 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\-F48 | A3243G\-F48\-P1 | Fam | F | N | N | A | ND | 0% | / | / | / | Healthy | Figure 1 open symbol with WT\-only ASO result; included as eligible negative\-tested child because the branch independently satisfies the mother\-level rule through positive siblings Individuals15 and 16; Healthy |
| 2 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 3 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 4 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 5 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 6 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P6 | Fam | M | Y | Y | A | ND | / | / | / | / | MELAS patient | Figure 1 black symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported. |

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