T3290C-F2

**Figure 1\. Pedigree diagram for family T3290C\-F2\.**

![](/media/202606/20260630210710183470.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3290 | m.3290T\>C | T3290C\-F2 | China | Cardiomyopathy, MELAS | 14 | 8 | 2025 | [40514671](https://pubmed.ncbi.nlm.nih.gov/40514671/) |  |

The **m.3290T\>C** variant in MT\-TL1 was reported in family T3290C\-F2 from China with cardiomyopathy, melas. The pedigree record reported 14 unaffected and 8 affected maternal relatives, and the carrier table includes 23 listed carriers. Homoplasmy was reported in 10/23 listed carriers; 9/23 carriers were affected, and the main clinical manifestation among affected carriers was cardiomyopathy, hypertension, tachycardia, liver cirrhosis, melas, dyspnea, pneumonia, 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 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-I2 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy | Carrying A3243G |
| 2 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-II2 | Fam | F | N | Y | D | 70 | / | / | / | / | Cardiomyopathy | Carrying A3244G |
| 3 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-II3 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Carrying A3245G |
| 4 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III2 | Fam | F | N | Y | D | 30 | / | / | / | / | Cardiomyopathy | Carrying A3246G |
| 5 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III3 | Fam | F | N | Y | D | 3 | / | / | / | / | Cardiomyopathy | Carrying A3247G |
| 6 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III4 | Fam | M | N | N | A | ND | Homo | / | / | / | Increased heart rate occasionally | Carrying A3248G |
| 7 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III6 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A3249G |
| 8 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III7 | Fam | F | N | Y | D | ND | / | / | / | / | Cardiomyopathy | Carrying A3250G |
| 9 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III8 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying A3251G |
| 10 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV1 | Fam | F | N | Y | D | 3 | / | / | / | / | Cardiomyopathy | Carrying A3252G |
| 11 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV2 | Fam | F | N | N | A | 47 | Homo | / | / | / | Healthy | Carrying A3253G |
| 12 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV4 | Fam | M | N | Y | A | 46 | Homo | / | / | / | Hypertension, tachycardia, liver cirrhosis | Carrying A3254G |
| 13 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV8 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A3255G |
| 14 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV10 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A3256G |
| 15 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV13 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying A3257G |
| 16 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV14 | Fam | M | N | Y | D | 30 | / | / | / | / | Cardiomyopathy | Carrying A3258G |
| 17 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V1 | Fam | F | N | N | A | 27 | Homo | / | / | / | Healthy | Carrying A3259G |
| 18 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V3 | Fam | M | N | N | A | 24 | Homo | / | / | / | Healthy | Carrying A3260G |
| 19 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A3261G |
| 20 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying A3262G |
| 21 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V6 | Fam | M | N | Y | A | ND | / | / | / | / | Cardiomyopathy | Carrying A3263G |
| 22 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V7 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying A3264G |
| 23 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-VI1 | Fam | M | Y | Y | D | 2\.5 | Homo | / | / | / | MELAS, dyspnea, pneumonia, heart failure | Carrying A3265G |

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