T7510C-F1

**Figure 1\. Pedigree diagram for family T7510C\-F1\.**

![](/media/202606/20260622190807429484.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7510 | m.7510T\>C | T7510C\-F1 | UK | Hearing loss | 1 | 11 | 2000 | [10978361](https://pubmed.ncbi.nlm.nih.gov/10978361/) |  |

The **m.7510T\>C** variant in MT\-TS1 was reported in family T7510C\-F1 from UK with hearing loss. The pedigree record reported 1 unaffected and 11 affected maternal relatives, and the carrier table includes 13 listed carriers. Homoplasmy was reported in 0/13 listed carriers; 12/13 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 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-I1 | Uninf | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 2 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-II2 | Fam | F | N | Y | D | 70 | / | / | / | / | Hearing loss |  |
| 3 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-II4 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 4 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-II6 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 5 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-III1 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 6 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-III3 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 7 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-III6 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 8 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-III7 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 9 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-III9 | Fam | F | N | Y | A | ND | 90% | / | / | / | Hearing loss |  |
| 10 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-IV4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 11 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-IV5 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 12 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-IV6 | Fam | M | Y | Y | A | 15 months | \>95% | / | / | / | Hearing loss |  |
| 13 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-IV7 | Fam | F | N | Y | A | ND | \>95% | / | / | / | Hearing loss |  |

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