T12297C-F1

**Figure 1\. Pedigree diagram for family T12297C\-F1\.**

![](/media/202606/20260625142253336074.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12297 | m.12297T\>C | T12297C\-F1 | Italy | Idiopathic dilated cardiomyopathy, endocardial fibroelastosis | 1 | 2 | 1999 | [10602359](https://pubmed.ncbi.nlm.nih.gov/10602359/) |  |

The **m.12297T\>C** variant in MT\-TL2 was reported in family T12297C\-F1 from Italy with idiopathic dilated cardiomyopathy, endocardial fibroelastosis. 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; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was idiopathic dilated cardiomyopathy, endocardial fibroelastosis, heart failure.

# 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 | 12297 | m.12297T\>C | T12297C\-F1 | T12297C\-F1\-I2 | Uninf | F | N | N | A | ND | / | 65% | / | / | Healthy |  |
| 2 | 12297 | m.12297T\>C | T12297C\-F1 | T12297C\-F1\-II1 | Fam | M | Y | Y | A | 7 | / | \>95% | / | / | Idiopathic dilated cardiomyopathy, endocardial fibroelastosis |  |
| 3 | 12297 | m.12297T\>C | T12297C\-F1 | T12297C\-F1\-II2 | Fam | F | N | Y | A | 9 | / | \>95% | / | / | Heart failure |  |
| 4 | 12297 | m.12297T\>C | T12297C\-F1 | T12297C\-F1\-II3 | Fam | M | N | Y | D | 15 months | / | / | / | / | Idiopathic dilated cardiomyopathy |  |

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