T7512C-F2

**Figure 1\. Pedigree diagram for family T7512C\-F2\.**

![](/media/202606/20260622191752851028.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\-F2 | Germany | Progressive myoclonus epilepsy, deafness | 0 | 2 | 1998 | [9778262](https://pubmed.ncbi.nlm.nih.gov/9778262/) |  |

The **m.7512T\>C** variant in MT\-TS1 was reported in family T7512C\-F2 from Germany with progressive myoclonus epilepsy, deafness. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was photosensitive myoclonus, generalized tonic\-clonic seizures, bilateral sensorineural hearing loss, progressive cerebellar ataxia, dementia, mild glucose intolerance, basal ganglia, cerebellar calcifications.

# 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\-F2 | T7512C\-F2\-I2 | Uninf | F | N | Y | A | ND | 40% | / | / | / | Photosensitive myoclonus |  |
| 2 | 7512 | m.7512T\>C | T7512C\-F2 | T7512C\-F2\-II1 | Fam | F | Y | Y | D | 14 | / | 95% | / | / | Photosensitive myoclonus, generalized tonic\-clonic seizures, bilateral sensorineural hearing loss, progressive cerebellar ataxia, dementia, mild glucose intolerance, basal ganglia, cerebellar calcifications |  |
| 3 | 7512 | m.7512T\>C | T7512C\-F2 | T7512C\-F2\-II2 | Fam | F | N | Y | A | ND | 45% | / | / | / | Photosensitive myoclonus |  |

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