C15975T-F1

**Figure 1\. Pedigree diagram for family C15975T\-F1\.**

![](/media/202606/20260629234245350485.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15975 | m.15975C\>T | C15975T\-F1 | Italy | NARP\-like syndrome | 3 | 0 | 2009 | [19223931](https://pubmed.ncbi.nlm.nih.gov/19223931/) |  |

The **m.15975C\>T** variant in MT\-TP was reported in family C15975T\-F1 from Italy with narp\-like syndrome. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was narp\-like syndrome.

# 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 | 15975 | m.15975C\>T | C15975T\-F1 | C15975T\-F1\-II2 | Uninf | F | Y | Y | A | 56 | \<10% | 40% | 40% | 0%(BM,H,F) | NARP\-like syndrome |  |
| 2 | 15975 | m.15975C\>T | C15975T\-F1 | C15975T\-F1\-III1 | Fam | F | N | N | A | ND | 0% | / | 0% | 0%(BM,H) | Healthy |  |

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