A12265G-F1

**Figure 1\. Pedigree diagram for family A12265G\-F1\.**

![](/media/202606/20260622173027040027.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12265 | m.12265A\>G | A12265G\-F1 | China | Dilated cardiomyopathy | 3 | 5 | 2025 | [40519988](https://pubmed.ncbi.nlm.nih.gov/40519988/) | Carrying G5821A |

The **m.12265A\>G** variant in MT\-TS2 was reported in family A12265G\-F1 from China with dilated cardiomyopathy. The pedigree record reported 3 unaffected and 5 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in 3/9 listed carriers; 6/9 carriers were affected, and the main clinical manifestation among affected carriers was dilated cardiomyopathy.

# 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 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Dilated cardiomyopathy | Carrying G5821A |
| 2 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-II1 | Fam | M | N | Y | D | ND | / | / | / | / | Dilated cardiomyopathy | Carrying G5821A |
| 3 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-II4 | Fam | F | N | Y | D | ND | / | / | / | / | Dilated cardiomyopathy | Carrying G5821A |
| 4 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-II6 | Fam | F | N | Y | A | 66 | Homo | / | / | / | Dilated Cardiomyopathy | Carrying G5821A |
| 5 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-II8 | Fam | F | N | Y | A | 59 | Homo | / | / | / | Dilated Cardiomyopathy | Carrying G5821A |
| 6 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying G5821A |
| 7 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-III3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying G5821A |
| 8 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-III4 | Fam | M | Y | Y | A | 44 | Homo | / | / | / | Dilated Cardiomyopathy | Carrying G5821A |
| 9 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-III5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying G5821A |

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