T3253C-F1

**Figure 1\. Pedigree diagram for family T3253C\-F1\.**

![](/media/202607/T3253C-F1-pedigree_20260701032134785181.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 | 3253 | m.3253T\>C | T3253C\-F1 | China | Hypertension | 1 | 3 | 2017 | [28679533](https://pubmed.ncbi.nlm.nih.gov/28679533/) |  |

The **m.3253T\>C** variant in MT\-TL1 was reported in family T3253C\-F1 from China with hypertension. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 4/5 listed carriers; 4/5 carriers were affected, and the main clinical manifestation among affected carriers was hypertension.

# 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 | 3253 | m.3253T\>C | T3253C\-F1 | T3253C\-F1\-I2 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 2 | 3253 | m.3253T\>C | T3253C\-F1 | T3253C\-F1\-II1 | Fam | M | Y | Y | A | 53 | Homo | / | / | / | Hypertension |  |
| 3 | 3253 | m.3253T\>C | T3253C\-F1 | T3253C\-F1\-II4 | Fam | F | N | Y | A | 35 | Homo | / | / | / | Hypertension |  |
| 4 | 3253 | m.3253T\>C | T3253C\-F1 | T3253C\-F1\-II5 | Fam | M | N | Y | A | 43 | Homo | / | / | / | Hypertension |  |
| 5 | 3253 | m.3253T\>C | T3253C\-F1 | T3253C\-F1\-III3 | Fam | M | N | Y | A | 28 | Homo | / | / | / | Hypertension |  |

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