T616C-F7

**Figure 1\. Pedigree diagram for family T616C\-F7\.**

![](/media/202607/20260721174937985224.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\-F7 | China | Isolated chronic kidney disease and hyperuricemia | 4 | 1 | 2022 | [35472031](https://pubmed.ncbi.nlm.nih.gov/35472031/) |  |

The **m.616T\>C** variant in MT\-TF was reported in family T616C\-F7 from China with isolated chronic kidney disease and hyperuricemia. The pedigree record reported 4 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 1/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was ckd (g2\), ckd (g3\) and hyperuricemia.

# 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\-F7 | T616C\-F7\-II2 | Fam | F | N | Y | A | 38 | 76\.27% | ND | 94\.5% | PBL 76\.27% saliva 89\.85% | CKD (G2\) |  |
| 2 | 616 | m.616T\>C | T616C\-F7 | T616C\-F7\-III1 | Fam | M | Y | Y | A | 13 | Homo | ND | Homo | ND | CKD (G3\) and hyperuricemia |  |
| 3 | 616 | m.616T\>C | T616C\-F7 | T616C\-F7\-III2 | Fam | F | N | N | A | 8 | 55\.17% | ND | 87\.26% | PBL 55\.17% saliva 77\.25% | / |  |

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