A3243G-F242

**Figure 1\. Pedigree diagram for family A3243G\-F242\.**

![](/media/202607/A3243G-F242-pedigree_20260701030210657550.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\-F242 | Sweden | Diabetes mellitus and sensorineural hearing loss with A3243G | 2 | 10 | 1998 | [9633820](https://pubmed.ncbi.nlm.nih.gov/9633820/) | Family C from Figure 1/Table 1; excludes CII\-3 clinical\-only hearing\-loss relative. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F242 from Sweden with diabetes mellitus and sensorineural hearing loss with a3243g. The pedigree record reported 2 unaffected and 10 affected maternal relatives, and the carrier table includes 13 listed carriers. Homoplasmy was reported in 0/13 listed carriers; 13/13 carriers were affected, and the main clinical manifestation among affected carriers was diabetes onset 70, snhl onset 65, needs hearing aid, diabetes onset 53, insulin from 62, snhl onset 69, diabetes onset 50, insulin from 52\.

# 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\-F242 | A3243G\-F242\-P1 | Fam | ND | N | Y | A | 76 | 3% | / | / | / | Diabetes onset 70; SNHL onset 65; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P2 | Fam | ND | N | Y | A | 74 | 6% | / | / | / | Diabetes onset 53; Insulin from 62; SNHL onset 69; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P3 | Fam | ND | N | Y | A | 55 | 0\.8% | / | / | / | Diabetes onset 50; Insulin from 52; SNHL onset 20; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 4 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P4 | Fam | ND | N | Y | A | 54 | 4% | / | / | / | Diabetes onset 12 interpreted as intercurrent type 1 diabetes; SNHL onset 54 | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 5 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P5 | Fam | ND | N | Y | A | 55 | 4% | / | / | / | Diabetes onset 46; Insulin from 50; SNHL onset 54; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 6 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P6 | Fam | ND | N | Y | A | 47 | 3% | / | / | / | Diabetes onset 34; Insulin from 34; SNHL onset 47 | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 7 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P7 | Fam | ND | N | Y | A | 45 | 0\.6% | / | / | / | Diabetes onset 16; Insulin from 16; SNHL onset 30; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 8 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P8 | Fam | ND | N | Y | A | 43 | 15% | / | / | / | Diabetes onset 18; Insulin from 18; SNHL onset 43 | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 9 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P9 | Fam | ND | Y | Y | A | 30 | 2% | / | / | / | Diabetes onset 25; Insulin from 25; SNHL onset 15; Needs hearing aid; Arrowed proband | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 10 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P10 | Fam | ND | N | Y | A | 28 | 2% | / | / | / | Gestational diabetes at 28; SNHL onset 13; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 11 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P11 | Fam | ND | N | Y | A | 35 | 9% | / | / | / | Gestational diabetes at 32 | Whole\-blood heteroplasmy percentage from Table 1/Figure 1; pedigree shows affected carrier |
| 12 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P12 | Fam | ND | N | Y | A | 33 | 3% | / | / | / | No diabetes or SNHL reported | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 13 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P13 | Fam | ND | N | Y | A | 19 | 3% | / | / | / | Normal OGTT and normal hearing | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |

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