A3243G-F457

**Figure 1\. Pedigree diagram for family A3243G\-F457\.**

![](/media/202607/A3243G-F457-pedigree_20260701031250943963.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\-F457 | United Kingdom | Macular dystrophy associated with A3243G; hearing loss/diabetes in subsets | 1 | 2 | 2008 | [18332310](https://pubmed.ncbi.nlm.nih.gov/18332310/) | Figure 1 Family 5 and Table 2\. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F457 from United Kingdom with macular dystrophy associated with a3243g; hearing loss/diabetes in subsets. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was proband, maculopathy and objective hearing loss, brother, rpe mottling and objective hearing loss, son, single drusen, normal hearing and no 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\-F457 | A3243G\-F457\-IV4 | Fam | F | Y | Y | A | 52 | / | / | / | / | Proband; Maculopathy and objective hearing loss | Figure 1 Family 5; Table 2\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F457 | A3243G\-F457\-IV1 | Fam | M | N | Y | A | 59 | / | / | / | / | Brother; RPE mottling and objective hearing loss | Figure 1 Family 5; Table 2\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F457 | A3243G\-F457\-IV6 | Fam | M | N | Y | A | 45 | / | / | / | / | Brother; RPE mottling and objective hearing loss | Figure 1 Family 5; Table 2\. |
| 4 | 3243 | m.3243A\>G | A3243G\-F457 | A3243G\-F457\-V3 | Fam | M | N | Y | A | 23 | / | / | / | / | Son; Single drusen, normal hearing and no diabetes | Figure 1 Family 5; Table 2\. |

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