T3271C-F7

**Figure 1\. Pedigree diagram for family T3271C\-F7\.**

![](/media/202606/20260630210417414320.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3271 | m.3271T\>C | T3271C\-F7 | Italy | MELAS | 1 | 0 | 2015 | [25680467](https://pubmed.ncbi.nlm.nih.gov/25680467/) |  |

The **m.3271T\>C** variant in MT\-TL1 was reported in family T3271C\-F7 from Italy with melas. The pedigree record reported 1 unaffected and 0 affected maternal relatives, 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 easy fatigability, myalgia, failure to thrive, short stature, complete growth hormone deficiency, generalized hypotonia, muscle wasting, muscle weakness.

# 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 | 3271 | m.3271T\>C | T3271C\-F7 | T3271C\-F7\-I2 | Uninf | F | N | N | A | 37 | 21\.6% | / | 51% | 71\.6% (F) | Healthy |  |
| 2 | 3271 | m.3271T\>C | T3271C\-F7 | T3271C\-F7\-II1 | Fam | F | Y | Y | A | 3 | 84\.3% | 96\.3% | 95\.6% | 82\.9% (F) | Easy fatigability, myalgia, failure to thrive, short stature, complete growth hormone deficiency, generalized hypotonia, muscle wasting, muscle weakness, positive Gowers sign, reduced tendon reflexes, mild sensory\-neural hearing loss, generalized osteoporosis, epiphyseal knee abnormalities, severely delayed bone age, mild concentric hypertrophic cardiomyopathy, left ventricular hypertrophy |  |

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