A3243G-F454

**Figure 1\. Pedigree diagram for family A3243G\-F454\.**

![](/media/202607/A3243G-F454-pedigree_20260701031233070590.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\-F454 | United Kingdom | Macular dystrophy associated with A3243G; hearing loss/diabetes in subsets | 0 | 11 | 2008 | [18332310](https://pubmed.ncbi.nlm.nih.gov/18332310/) | Figure 1 Family 2 and Table 2\. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F454 from United Kingdom with macular dystrophy associated with a3243g; hearing loss/diabetes in subsets. The pedigree record reported 0 unaffected and 11 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in 0/12 listed carriers; 12/12 carriers were affected, and the main clinical manifestation among affected carriers was macular dystrophy, maculopathy, cousin, rpe mottling, normal fundus with objective hearing loss, sister, maculopathy and objective hearing loss, brother.

# 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\-F454 | A3243G\-F454\-III11 | Fam | F | Y | Y | A | 54 | / | / | / | / | Macular dystrophy | Figure 1 Family 2; Table 2; Proband with; family phenotype |
| 2 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-II4 | Fam | F | N | Y | A | 92 | / | / | / | / | Maculopathy | Figure 1 Family 2; Table 2; Maternal aunt; A3243G positive |
| 3 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III3 | Fam | ND | N | Y | A | 65 | / | / | / | / | Cousin; RPE mottling | Figure 1 Family 2; Table 2\. |
| 4 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III5 | Fam | ND | N | Y | A | 50 | / | / | / | / | Cousin; Normal fundus with objective hearing loss | Figure 1 Family 2; Table 2\. |
| 5 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III7 | Fam | F | N | Y | A | 59 | / | / | / | / | Sister; Maculopathy and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 6 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III8 | Fam | M | N | Y | A | 58 | / | / | / | / | Brother; RPE/PPA, objective hearing loss, diabetes | Figure 1 Family 2; Table 2\. |
| 7 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III13 | Fam | F | N | Y | A | 56 | / | / | / | / | Sister; RPE mottling and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 8 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-IV4 | Fam | M | N | Y | A | 36 | / | / | / | / | Nephew; RPE mottling and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 9 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-IV8 | Fam | M | N | Y | A | 34 | / | / | / | / | Son; PPA/normal fundus and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 10 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-IV10 | Fam | M | N | Y | A | 25 | / | / | / | / | Son; RPE mottling and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 11 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-IV11 | Fam | F | N | Y | A | 34 | / | / | / | / | Niece; Drusen and objective low\-frequency hearing loss | Figure 1 Family 2; Table 2\. |
| 12 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-IV12 | Fam | M | N | Y | A | 32 | / | / | / | / | Nephew; RPE mottling and objective hearing loss | Figure 1 Family 2; Table 2\. |

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