T7511C-F2

**Figure 1\. Pedigree diagram for family T7511C\-F2\.**

![](/media/202606/20260622191411472713.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7511 | m.7511T\>C | T7511C\-F2 | Japan | Hearing loss | 6 | 13 | 2002 | [12172268](https://pubmed.ncbi.nlm.nih.gov/12172268/) |  |

The **m.7511T\>C** variant in MT\-TS1 was reported in family T7511C\-F2 from Japan with hearing loss. The pedigree record reported 6 unaffected and 13 affected maternal relatives, and the carrier table includes 20 listed carriers. Homoplasmy was reported in 0/20 listed carriers; 14/20 carriers were affected, and the main clinical manifestation among affected carriers was hearing loss.

# 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 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 2 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II1 | Fam | M | Y | Y | A | 43 | 90% | / | / | / | Hearing loss |  |
| 3 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II3 | Fam | F | N | Y | A | 8 | 89% | / | / | / | Hearing loss |  |
| 4 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II5 | Fam | F | N | Y | A | 57 | 84% | / | / | / | Hearing loss |  |
| 5 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II7 | Fam | F | N | Y | A | 28 | 85% | / | / | / | Hearing loss |  |
| 6 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II9 | Fam | F | N | Y | A | 50 | 86% | / | / | / | Hearing loss |  |
| 7 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II10 | Fam | F | N | N | A | 46 | 86% | / | / | / | Healthy |  |
| 8 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II11 | Fam | M | N | Y | A | 30 | 90% | / | / | / | Hearing loss |  |
| 9 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III1 | Fam | M | N | Y | A | 3 | 90% | / | / | / | Hearing loss |  |
| 10 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III2 | Fam | F | N | Y | A | 8 | 89% | / | / | / | Hearing loss |  |
| 11 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III3 | Fam | F | N | N | A | 31 | 88% | / | / | / | Healthy |  |
| 12 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III4 | Fam | F | N | N | A | 31 | 92% | / | / | / | Healthy |  |
| 13 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III5 | Fam | M | N | Y | A | 10 | 86% | / | / | / | Hearing loss |  |
| 14 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III7 | Fam | F | N | Y | A | 14 | 89% | / | / | / | Hearing loss |  |
| 15 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III8 | Fam | M | N | Y | A | 33 | 92% | / | / | / | Hearing loss |  |
| 16 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III9 | Fam | F | N | N | A | 32 | 90% | / | / | / | Healthy |  |
| 17 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III10 | Fam | M | N | Y | A | 30 | 86% | / | / | / | Hearing loss |  |
| 18 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III11 | Fam | M | N | N | A | 33 | 90% | / | / | / | Healthy |  |
| 19 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III12 | Fam | F | N | Y | A | 9 | 89% | / | / | / | Hearing loss |  |
| 20 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III13 | Fam | F | N | N | A | 28 | 86% | / | / | / | Healthy |  |

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