T7511C-F7

**Figure 1\. Pedigree diagram for family T7511C\-F7\.**

![](/media/202606/20260622191539378009.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\-F7 | China | Hearing loss | 2 | 9 | 2015 | [26279247](https://pubmed.ncbi.nlm.nih.gov/26279247/) |  |

The **m.7511T\>C** variant in MT\-TS1 was reported in family T7511C\-F7 from China with hearing loss. The pedigree record reported 2 unaffected and 9 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in 9/11 listed carriers; 9/11 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\-F7 | T7511C\-F7\-I1 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 2 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II1 | Fam | F | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss |  |
| 3 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II2 | Fam | M | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss |  |
| 4 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II3 | Fam | F | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss |  |
| 5 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II4 | Fam | F | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss |  |
| 6 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II5 | Fam | F | N | N | A | 14\~25 | Homo | / | / | / | Healthy |  |
| 7 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II6 | Fam | F | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss |  |
| 8 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-III1 | Fam | M | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss |  |
| 9 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-III3 | Fam | F | Y | Y | A | 14\~25 | Homo | / | / | / | Hearing loss |  |
| 10 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-III4 | Fam | M | N | N | A | 14\~25 | Homo | / | / | / | Healthy |  |
| 11 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-III5 | Fam | M | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss |  |

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