A643G-F1

**Figure 1\. Pedigree diagram for family A643G\-F1\.**

![](/media/202606/20260626174217872761.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 643 | m.643A\>G | A643G\-F1 | The Netherlands | Gitelman\-Like Syndrome | 0 | 6 | 2022 | [34607911](https://pubmed.ncbi.nlm.nih.gov/34607911/) |  |

The **m.643A\>G** variant in MT\-TF was reported in family A643G\-F1 from The Netherlands with gitelman\-like syndrome. The pedigree record reported 0 unaffected and 6 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 7/7 carriers were affected, and the main clinical manifestation among affected carriers was ckd, tubulopathy, mild albuminuria, eskd, elevated rbp.

# 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 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-I2 | Uninf | F | N | Y | A | 50 | / | / | / | / | CKD |  |
| 2 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-II2 | Fam | F | N | Y | A | 22 | / | / | / | / | Tubulopathy, CKD, mild albuminuria |  |
| 3 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-II4 | Fam | F | N | Y | A | 21 | / | / | / | / | Tubulopathy, CKD |  |
| 4 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-II5 | Fam | F | N | Y | A | 14 | / | / | / | / | Tubulopathy |  |
| 5 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-III1 | Fam | F | Y | Y | A | 2 | / | / | / | / | Tubulopathy, ESKD, mild albuminuria, elevated RBP |  |
| 6 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-III2 | Fam | F | N | Y | A | 1 | / | / | / | / | Tubulopathy, mild albuminuria, elevated RBP |  |
| 7 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-III3 | Fam | F | N | Y | A | ND | / | / | / | / | Tubulopathy |  |

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