T4353C-F2

**Figure 1\. Pedigree diagram for family T4353C\-F2\.**

![](/media/202606/20260622170210714649.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4353 | m.4353T\>C | T4353C\-F2 | China | Hypertension | 1 | 6 | 2012 | [22549939](https://pubmed.ncbi.nlm.nih.gov/22549939/) | Carrying C593T,C5553T |

The **m.4353T\>C** variant in MT\-TQ was reported in family T4353C\-F2 from China with hypertension. The pedigree record reported 1 unaffected and 6 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 5/5 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 | 4353 | m.4353T\>C | T4353C\-F2 | T4353C\-F2\-II3 | Fam | F | Y | Y | A | 94 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 2 | 4353 | m.4353T\>C | T4353C\-F2 | T4353C\-F2\-III1 | Fam | M | N | Y | A | 75 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 3 | 4353 | m.4353T\>C | T4353C\-F2 | T4353C\-F2\-III3 | Fam | M | N | Y | A | 65 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 4 | 4353 | m.4353T\>C | T4353C\-F2 | T4353C\-F2\-III6 | Fam | F | N | Y | A | 70 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 5 | 4353 | m.4353T\>C | T4353C\-F2 | T4353C\-F2\-IV5 | Fam | F | N | Y | A | 51 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |

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