T5543C-F2

**Figure 1\. Pedigree diagram for family T5543C\-F2\.**

![](/media/202607/T5543C-F2-pedigree_20260701032447675660.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 | 5543 | M.5543T\>C | T5543C\-F2 | Pakistani | MELAS | 3 | 1 | 2011 | [21712854](https://pubmed.ncbi.nlm.nih.gov/21712854/) |  |

The **m.5543T\>C** variant in MT\-TW was reported in family T5543C\-F2 from Pakistani with melas. The pedigree record reported 3 unaffected and 1 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 headaches, hemianopia persisted.

# 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 | 5543 | M.5543T\>C | T5543C\-F2 | T5543C\-F2\-III1 | Uninf | F | Y | Y | ND | ND | 42% | 99% | 92% | 55% (BM) | Headaches,hemianopia persisted |  |
| 2 | 5543 | M.5543T\>C | T5543C\-F2 | T5543C\-F2\-II4 | Uninf | F | N | N | ND | ND | 8% | / | 29% | 14%(BM) | Healthy |  |

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