T7512C-F3

**Figure 1\. Pedigree diagram for family T7512C\-F3\.**

![](/media/202606/20260622191815940246.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7512 | m.7512T\>C | T7512C\-F3 | Germany | Progressive myoclonus epilepsy, deafness | 8 | 0 | 1998 | [9778262](https://pubmed.ncbi.nlm.nih.gov/9778262/) |  |

The **m.7512T\>C** variant in MT\-TS1 was reported in family T7512C\-F3 from Germany with progressive myoclonus epilepsy, deafness. The pedigree record reported 8 unaffected and 0 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in 0/9 listed carriers; 1/9 carriers were affected, and the main clinical manifestation among affected carriers was severe hearing loss, myoclonic jerks, dystonic posturing, inability to walk, marked psychomotor retardation, loss of acquired skills.

# 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 | 7512 | m.7512T\>C | T7512C\-F3 | T7512C\-F3\-I2 | Uninf | F | N | N | A | ND | 50% | / | / | / | Healthy |  |
| 2 | 7512 | m.7512T\>C | T7512C\-F3 | T7512C\-F3\-II1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 7512 | m.7512T\>C | T7512C\-F3 | T7512C\-F3\-II2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 7512 | m.7512T\>C | T7512C\-F3 | T7512C\-F3\-II4 | Fam | F | N | N | A | ND | 75% | / | / | / | Healthy |  |
| 5 | 7512 | m.7512T\>C | T7512C\-F3 | T7512C\-F3\-II6 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 6 | 7512 | m.7512T\>C | T7512C\-F3 | T7512C\-F3\-III1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 7 | 7512 | m.7512T\>C | T7512C\-F3 | T7512C\-F3\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 8 | 7512 | m.7512T\>C | T7512C\-F3 | T7512C\-F3\-III3 | Fam | M | N | N | A | ND | 30% | / | / | / | Healthy |  |
| 9 | 7512 | m.7512T\>C | T7512C\-F3 | T7512C\-F3\-III4 | Fam | M | Y | Y | A | 6 | 100% | 100% | / | / | Severe hearing loss, myoclonic jerks, dystonic posturing, inability to walk, marked psychomotor retardation, loss of acquired skills |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).