C3303T-F7

**Figure 1\. Pedigree diagram for family C3303T\-F7\.**

![](/media/202607/C3303T-F7-pedigree_20260701032117843740.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 | 3303 | m.3303C\>T | C3303T\-F7 | Spain | Myopathy, cardiomyopathy, psychiatric illness | 2 | 4 | 2001 | [11768589](https://pubmed.ncbi.nlm.nih.gov/11768589/) |  |

The **m.3303C\>T** variant in MT\-TL1 was reported in family C3303T\-F7 from Spain with myopathy, cardiomyopathy, psychiatric illness. The pedigree record reported 2 unaffected and 4 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 5/7 carriers were affected, and the main clinical manifestation among affected carriers was early dementia, psychiatric illness characterized by psychoses and recurrent episodes of depression, short stature, migraine, early fatigue, psychoses, maniac\-depressive crises, pneumonia.

# 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 | 3303 | m.3303C\>T | C3303T\-F7 | C3303T\-F7\-I1 | Uninf | F | N | Y | D | 60 | / | / | / | / | Early dementia |  |
| 2 | 3303 | m.3303C\>T | C3303T\-F7 | C3303T\-F7\-II1 | Fam | F | N | Y | D | 30 | / | / | / | / | Psychiatric illness characterized by psychoses and recurrent episodes of depression |  |
| 3 | 3303 | m.3303C\>T | C3303T\-F7 | C3303T\-F7\-III1 | Fam | F | N | Y | A | 33 | 25% | / | / | / | Short stature, migraine, early fatigue, psychiatric illness characterized by psychoses and recurrent episodes of depression |  |
| 4 | 3303 | m.3303C\>T | C3303T\-F7 | C3303T\-F7\-III2 | Fam | F | N | Y | A | 37 | 20% | / | / | / | Short stature, psychoses, maniac\-depressive crises |  |
| 5 | 3303 | m.3303C\>T | C3303T\-F7 | C3303T\-F7\-IV1 | Fam | F | Y | Y | A | 6 | 75% | 95% | / | / | Pneumonia, tachypnoea, lip cyanosis, cardiomegaly, left ventricular hypertrophy, delayed motor development, proximal weakness, lumbar lordosis, modified Gowers sign, easy fatigability, frequent falls, hyperlactatemia. |  |
| 6 | 3303 | m.3303C\>T | C3303T\-F7 | C3303T\-F7\-IV2 | Fam | F | N | N | A | 10 | 42% | / | / | / | Healthy |  |
| 7 | 3303 | m.3303C\>T | C3303T\-F7 | C3303T\-F7\-IV3 | Fam | F | N | N | A | 3 | 57% | / | / | / | Healthy |  |

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