A3243G-F458

**Figure 1\. Pedigree diagram for family A3243G\-F458\.**

![](/media/202607/A3243G-F458-pedigree_20260701031259639408.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\-F458 | United Kingdom | Macular dystrophy associated with A3243G; hearing loss/diabetes in subsets | 0 | 2 | 2008 | [18332310](https://pubmed.ncbi.nlm.nih.gov/18332310/) | Figure 1 Family 6 and Table 2\. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F458 from United Kingdom with macular dystrophy associated with a3243g; hearing loss/diabetes in subsets. 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 proband, maculopathy and objective hearing loss, sister, rpe mottling and diabetes, rpe mottling, objective hearing loss and diabetes.

# 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\-F458 | A3243G\-F458\-III7 | Fam | F | Y | Y | A | 48 | / | / | / | / | Proband; Maculopathy and objective hearing loss | Figure 1 Family 6; Table 2\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F458 | A3243G\-F458\-III4 | Fam | F | N | Y | A | 52 | / | / | / | / | Sister; RPE mottling and diabetes | Figure 1 Family 6; Table 2\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F458 | A3243G\-F458\-III8 | Fam | F | N | Y | A | 43 | / | / | / | / | Sister; RPE mottling, objective hearing loss and diabetes | Figure 1 Family 6; Table 2\. |

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