T9957C-F5

**Figure 1\. Pedigree diagram for family T9957C\-F5\.**

![](/media/202606/9616e8ab90cf4976aa4c9610a9a833173724.png)
# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9957 | m.9957T\>C | T9957C\-F5 | USA | MELAS | 2 | 0 | 1995 | [7496173](https://pubmed.ncbi.nlm.nih.gov/7496173/) |  |

The **m.9957T\>C** variant in MT\-CO3 was reported in family T9957C\-F5 from USA with melas. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was melas, stroke\-like episodes, blindness, ptosis, hearing loss, lactic acidosis.

# 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 | 9957 | m.9957T\>C | T9957C\-F5 | T9957C\-F5\-I1 | Uninf | M | Y | Y | ND | 11 | 60% | 81% | / | / | MELAS; stroke\-like episodes; blindness; ptosis; hearing loss; lactic acidosis |  |
| 2 | 9957 | m.9957T\>C | T9957C\-F5 | T9957C\-F5\-I2 | Uninf | F | N | N | ND | ND | 50% | / | / | / | Asymptomatic |  |
| 3 | 9957 | m.9957T\>C | T9957C\-F5 | T9957C\-F5\-II1 | Fam | M | N | N | ND | ND | / | / | / | / | No history of neurological disorders |  |

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