T4289C-F1

**Figure 1\. Pedigree diagram for family T4289C\-F1\.**

![](/media/202607/T4289C-F1-pedigree_20260701023359800998.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4289 | m.4289T\>C | T4289C\-F1 | UK | Retinopathy, diabetes, dysphagia, cerebral atrophy | 2 | 0 | 2013 | [23696415](https://pubmed.ncbi.nlm.nih.gov/23696415/) |  |

The **m.4289T\>C** variant in MT\-TI was reported in family T4289C\-F1 from UK with retinopathy, diabetes, dysphagia, cerebral atrophy. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was retinopathy, diabetes, dysphagia, cerebral atrophy.

# 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 | 4289 | m.4289T\>C | T4289C\-F1 | T4289C\-F1\-I2 | Uninf | F | N | N | A | ND | 0% | / | 0% | 0%(BM) | Healthy |  |
| 2 | 4289 | m.4289T\>C | T4289C\-F1 | T4289C\-F1\-II1 | Fam | F | N | N | A | ND | 0% | / | 0% | 0%(BM) | Healthy |  |
| 3 | 4289 | m.4289T\>C | T4289C\-F1 | T4289C\-F1\-II2 | Fam | F | Y | Y | A | 11 | 7% | 39% | 7% | / | Retinopathy, diabetes, dysphagia, cerebral atrophy |  |

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