A3243G-F241

**Figure 1\. Pedigree diagram for family A3243G\-F241\.**

![](/media/202607/A3243G-F241-pedigree_20260701030201910241.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\-F241 | Sweden | Diabetes mellitus and sensorineural hearing loss with A3243G | 2 | 1 | 1998 | [9633820](https://pubmed.ncbi.nlm.nih.gov/9633820/) | Family B from Figure 1/Table 1\. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F241 from Sweden with diabetes mellitus and sensorineural hearing loss with a3243g. The pedigree record reported 2 unaffected and 1 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 normal ogtt, snhl onset 67, needs hearing aid, no diabetes or snhl reported, diabetes onset 33, insulin from 33, snhl onset 20, arrowed proband.

# 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\-F241 | A3243G\-F241\-P1 | Fam | ND | N | Y | A | 69 | 2% | / | / | / | Normal OGTT; SNHL onset 67; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F241 | A3243G\-F241\-P2 | Fam | ND | N | Y | A | 65 | 1\.6% | / | / | / | No diabetes or SNHL reported | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F241 | A3243G\-F241\-P3 | Fam | ND | N | Y | A | 36 | 1\.3% | / | / | / | No diabetes or SNHL reported | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 4 | 3243 | m.3243A\>G | A3243G\-F241 | A3243G\-F241\-P4 | Fam | ND | Y | Y | A | 34 | 1\.3% | / | / | / | Diabetes onset 33; Insulin from 33; SNHL onset 20; Needs hearing aid; Arrowed proband | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).