C591T-F6

**Figure 1\. Pedigree diagram for family C591T\-F6\.**

![](/media/202606/20260626174359797107.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 591 | m.591C\>T | C591T\-F6 | The Netherlands | Gitelman\-Like Syndrome | 4 | 1 | 2022 | [34607911](https://pubmed.ncbi.nlm.nih.gov/34607911/) |  |

The **m.591C\>T** variant in MT\-TF was reported in family C591T\-F6 from The Netherlands with gitelman\-like syndrome. The pedigree record reported 4 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was tubulopathy, ckd.

# 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 | 591 | m.591C\>T | C591T\-F6 | C591T\-F6\-I2 | Uninf | F | N | Y | A | ND | 100% | / | / | / | Tubulopathy, CKD |  |
| 2 | 591 | m.591C\>T | C591T\-F6 | C591T\-F6\-II3 | Fam | F | Y | Y | A | 39 | 100% | / | / | / | Tubulopathy, CKD |  |

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