T6459C-F1

**Figure 1\. Pedigree diagram for family T6459C\-F1\.**

![](/media/202606/20260626164121467897.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6459 | m.6459T\>C | T6459C\-F1 | Chinese | Sepsis | 0 | 3 | 2018 | [30207067](https://pubmed.ncbi.nlm.nih.gov/30207067/) |  |

The **m.6459T\>C** variant in MT\-CO1 was reported in family T6459C\-F1 from Chinese with sepsis. The pedigree record reported 0 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was sepsis, oral and maxillofacial infections, pneumonia, mediastinal infection, liver failure, coagulation disorders.

# 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 | 6459 | m.6459T\>C | T6459C\-F1 | T6459C\-F1\-I1 | Uninf | F | N | Y | D | ND | Homo | / | / | / | Sepsis |  |
| 2 | 6459 | m.6459T\>C | T6459C\-F1 | T6459C\-F1\-II1 | Fam | M | N | Y | D | ND | Homo | / | / | / | Sepsis |  |
| 3 | 6459 | m.6459T\>C | T6459C\-F1 | T6459C\-F1\-II2 | Fam | M | Y | Y | A | 49 | Homo | / | / | / | Sepsis; oral and maxillofacial infections; pneumonia; mediastinal infection; liver failure; coagulation disorders |  |
| 4 | 6459 | m.6459T\>C | T6459C\-F1 | T6459C\-F1\-II4 | Fam | M | N | Y | D | ND | Homo | / | / | / | Sepsis |  |

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