T7511C-F9

**Figure 1\. Pedigree diagram for family T7511C\-F9\.**

![](/media/202606/20260622191626973861.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\-F9 | Poland | Hearing loss | 4 | 6 | 2018 | [29257206](https://pubmed.ncbi.nlm.nih.gov/29257206/) |  |

The **m.7511T\>C** variant in MT\-TS1 was reported in family T7511C\-F9 from Poland with hearing loss. The pedigree record reported 4 unaffected and 6 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in 0/11 listed carriers; 7/11 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\-F9 | T7511C\-F9\-I2 | Uninf | F | N | Y | D | 3\.5 | 50% | / | / | / | Hearing loss |  |
| 2 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II1 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 3 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II2 | Fam | M | N | N | A | 57 | 100% | / | / | / | Healthy |  |
| 4 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II5 | Fam | F | N | Y | A | 37 | 100% | / | / | / | Hearing loss |  |
| 5 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II6 | Fam | M | N | N | A | 54 | 100% | / | / | / | Healthy |  |
| 6 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II8 | Fam | M | N | Y | A | 40 | 100% | / | / | / | Hearing loss |  |
| 7 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II10 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 8 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II12 | Fam | F | N | Y | A | 2\.5 | 100% | / | / | / | Hearing loss |  |
| 9 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-III8 | Fam | F | Y | Y | A | 3 | 100% | / | / | / | Hearing loss |  |
| 10 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-III9 | Fam | F | N | Y | A | \<1 | 100% | / | / | / | Hearing loss |  |
| 11 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-IV1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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