T1659C-F1

**Figure 1\. Pedigree diagram for family T1659C\-F1\.**

![](/media/202606/20260625174613623765.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1659 | m.1659T\>C | T1659C\-F1 | UK | Childhood\-onset encephalopathy, learning difficulties, hemiplegia, movement disorder(dystonia), ichthyosis, hypertrophic cardiomyopathy, bilateral putaminal lesions | ND | ND | 2004 | [15465092](https://pubmed.ncbi.nlm.nih.gov/15465092/) |  |

The **m.1659T\>C** variant in MT\-TV was reported in family T1659C\-F1 from UK with childhood\-onset encephalopathy, learning difficulties, hemiplegia, movement disorder(dystonia), ichthyosis, hypertrophic cardiomyopathy, bilateral putaminal lesions. The pedigree record reported 1 unaffected and 1 affected maternal relative, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was childhood\-onset encephalopathy, learning difficulties, hemiplegia, movement disorder(dystonia), ichthyosis, hypertrophic cardiomyopathy, bilateral putaminal lesions.

# 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 | 1659 | m.1659T\>C | T1659C\-F1 | T1659C\-F1\-II1 | Fam | F | Y | Y | A | 13 | 98% | 98% | 99% | 99%(BM) | Childhood\-onset encephalopathy, learning difficulties, hemiplegia, movement disorder(dystonia), ichthyosis, hypertrophic cardiomyopathy, bilateral putaminal lesions |  |
| 2 | 1659 | m.1659T\>C | T1659C\-F1 | T1659C\-F1\-I2 | Uninf | F | N | N | A | ND | 7% | / | / | 19%(BM) | Healthy |  |

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