T616C-F5

**Figure 1\. Pedigree diagram for family T616C\-F5\.**

![](/media/202607/20260721174809752503.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 616 | m.616T\>C | T616C\-F5 | China | Isolated chronic kidney disease and hyperuricemia | 7 | 23 | 2022 | [35472031](https://pubmed.ncbi.nlm.nih.gov/35472031/) |  |

The **m.616T\>C** variant in MT\-TF was reported in family T616C\-F5 from China with isolated chronic kidney disease and hyperuricemia. The pedigree record reported 7 unaffected and 23 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was renal insufficiency, recurrent swelling and pain in the hands and feet.

# 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 | 616 | m.616T\>C | T616C\-F5 | T616C\-F5\-IV1 | Fam | F | Y | Y | A | 7 | Homo | ND | Homo | Skin Homo | Renal insufficiency, recurrent swelling and pain in the hands and feet |  |
| 2 | 616 | m.616T\>C | T616C\-F5 | T616C\-F5\-III2 | Uninf | F | N | Y | A | 30 | Homo | ND | ND | ND | Renal insufficiency |  |

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