T12148C-F1

**Figure 1\. Pedigree diagram for family T12148C\-F1\.**

![](/media/202606/20260622142336045586.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12148 | m.12148T\>C | T12148C\-F1 | USA | Cataracts, retinal dystrophy, hearing loss, myopathy, cognitive decline, parkinsonian movement disorder, ataxia, renal disease, hypertension, and autonomic dysfunction | 1 | 1 | 2023 | [37961166](https://pubmed.ncbi.nlm.nih.gov/37961166/) | Carrying T961C |

The **m.12148T\>C** variant in MT\-TH was reported in family T12148C\-F1 from USA with cataracts, retinal dystrophy, hearing loss, myopathy, cognitive decline, parkinsonian movement disorder, ataxia, renal disease, hypertension, and autonomic dysfunction. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was cataracts, hearing loss, cognitive decline, retinal dystrophy, myopathy, parkinsonian movement disorder, ataxia, renal disease.

# 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 | 12148 | m.12148T\>C | T12148C\-F1 | T12148C\-F1\-II2 | De novo | F | N | Y | A | 58 | 5% | / | 10% | 1% (F) | Cataracts, hearing loss, cognitive decline | Carrying T961C |
| 2 | 12148 | m.12148T\>C | T12148C\-F1 | T12148C\-F1\-III1 | Fam | F | Y | Y | D | 28 | 35% | 94% | / | 56% (F), 68% (Renal epithelial cells) | Cataracts,retinal dystrophy,hearing loss,myopathy, cognitive decline,parkinsonian movement disorder,ataxia,renal disease,hypertension,autonomic dysfunction | Carrying T961C |
| 3 | 12148 | m.12148T\>C | T12148C\-F1 | T12148C\-F1\-III2 | Fam | F | N | N | A | 28 | 0% | / | / | / | Healthy | Carrying T961C |

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