T4291C-F1

**Figure 1\. Pedigree diagram for family T4291C\-F1\.**

![](/media/202607/T4291C-F1-pedigree_20260701023417309371.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4291 | m.4291T\>C | T4291C\-F1 | Netherlands | Gitelman\-Like Syndrome | 5 | 5 | 2022 | [34607911](https://pubmed.ncbi.nlm.nih.gov/34607911/) |  |

The **m.4291T\>C** variant in MT\-TI was reported in family T4291C\-F1 from Netherlands with gitelman\-like syndrome. The pedigree record reported 5 unaffected and 5 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 5/6 listed carriers; 4/6 carriers were affected, and the main clinical manifestation among affected carriers was gitelman\-like syndrome, primary hyperparathyroidism.

# 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 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-III6 | Fam | F | Y | Y | A | 39 | 100% | / | / | / | Gitelman\-Like Syndrome |  |
| 2 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-III2 | Fam | F | N | Y | A | ND | 99% | / | / | / | Gitelman\-Like Syndrome, Primary hyperparathyroidism |  |
| 3 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-IV5 | Fam | M | N | Y | A | 34 | 97% | / | / | / | Gitelman\-Like Syndrome |  |
| 4 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-III3 | Fam | F | N | N | A | ND | 97% | / | / | / | Healthy |  |
| 5 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-III7 | Fam | F | N | N | A | ND | 97% | / | / | / | Healthy |  |
| 6 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-IV4 | Fam | M | N | Y | A | 36 | / | / | / | / | Gitelman\-Like Syndrome |  |

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