C5541T-F2

**Figure 1\. Pedigree diagram for family C5541T\-F2\.**

![](/media/202607/C5541T-F2-pedigree_20260701032400371259.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 | 5541 | M.5541C\>T | C5541T\-F2 | China | MELAS | ND | ND | 2023 | [36125978](https://pubmed.ncbi.nlm.nih.gov/36125978/) |  |

The **m.5541C\>T** variant in MT\-TW was reported in family C5541T\-F2 from China with melas. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was melas.

# 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 | 5541 | M.5541C\>T | C5541T\-F2 | C5541T\-F2\-I2 | Uninf | F | N | ND | D | ND | / | / | / | / | Died in youth from unknown cause |  |
| 2 | 5541 | M.5541C\>T | C5541T\-F2 | C5541T\-F2\-II2 | Uninf | F | Y | Y | A | 71 | 12\.86% | / | / | / | MELAS |  |
| 3 | 5541 | M.5541C\>T | C5541T\-F2 | C5541T\-F2\-III1 | Fam | F | N | N | A | ND | \+ | / | / | / | Healthy |  |
| 4 | 5541 | M.5541C\>T | C5541T\-F2 | C5541T\-F2\-III2 | Fam | F | N | N | A | ND | 0% | / | / | / | Healthy |  |

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