T593C-F1

**Figure 1\. Pedigree diagram for family T593C\-F1\.**

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 593 | m.593T\>C | T593C\-F1 | China | Nonsyndromic deafness | 5 | 4 | 2017 | [28579530](https://pubmed.ncbi.nlm.nih.gov/28579530/) |  |

The **m.593T\>C** variant in MT\-TF was reported in family T593C\-F1 from China with nonsyndromic deafness. The pedigree record reported 5 unaffected and 4 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in all listed carriers; 5/10 carriers were affected, and the main clinical manifestation among affected carriers was moderate, severe hearing impairment, moderate hearing impairment, mild hearing impairment, nonsyndromic deafness.

# 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 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-I2 | Uninf | F | N | N | D | / | Homo | ND | ND | skin fibroblast homo | / |  |
| 2 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-II2 | Fam | F | N | Y | A | 74 | Homo | ND | ND | skin fibroblast homo | Moderate/ Severe hearing impairment |  |
| 3 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III1 | Fam | M | N | N | A | 54 | Homo | ND | ND | skin fibroblast homo | / |  |
| 4 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III3 | Fam | M | N | Y | A | 52 | Homo | ND | ND | skin fibroblast homo | Moderate hearing impairment |  |
| 5 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III5 | Fam | M | N | N | A | 50 | Homo | ND | ND | skin fibroblast homo | / |  |
| 6 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III8 | Fam | F | N | Y | A | 47 | Homo | ND | ND | skin fibroblast homo | Moderate/ Severe hearing impairment |  |
| 7 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III9 | Fam | M | N | Y | A | 45 | Homo | ND | ND | skin fibroblast homo | Mild hearing impairment |  |
| 8 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III11 | Fam | F | Y | Y | A | 45 | Homo | ND | ND | skin fibroblast homo | Nonsyndromic deafness |  |
| 9 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-IV10 | Fam | M | N | N | A | 19 | Homo | ND | ND | skin fibroblast homo | / |  |
| 10 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-IV11 | Fam | F | N | N | A | / | Homo | ND | ND | skin fibroblast homo | / |  |

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