T3271C-F4

**Figure 1\. Pedigree diagram for family T3271C\-F4\.**

![](/media/202607/T3271C-F4-pedigree_20260701032152192454.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 | 3271 | m.3271T\>C | T3271C\-F4 | USA | MELAS | 2 | 4 | 2005 | [15794182](https://pubmed.ncbi.nlm.nih.gov/15794182/) |  |

The **m.3271T\>C** variant in MT\-TL1 was reported in family T3271C\-F4 from USA with melas. 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 diabetes mellitus, gestational diabetes mellitus, depression, seizures, mental retardation, cerebral palsy, migraine, short stature.

# 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\-F4 | T3271C\-F4\-I1 | Uninf | F | N | Y | A | ND | / | / | / | / | Diabetes mellitus |  |
| 2 | 3271 | m.3271T\>C | T3271C\-F4 | T3271C\-F4\-II2 | Fam | F | N | Y | A | ND | 0% | / | 0% | 5% (BM), 65% (H) | Gestational diabetes mellitus, depression, seizures |  |
| 3 | 3271 | m.3271T\>C | T3271C\-F4 | T3271C\-F4\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 3271 | m.3271T\>C | T3271C\-F4 | T3271C\-F4\-II4 | Fam | M | N | Y | D | 12 | / | / | / | / | Mental retardation, cerebral palsy |  |
| 5 | 3271 | m.3271T\>C | T3271C\-F4 | T3271C\-F4\-II5 | Fam | F | N | Y | D | ND | / | / | / | / | MELAS |  |
| 6 | 3271 | m.3271T\>C | T3271C\-F4 | T3271C\-F4\-III6 | Fam | M | N | N | A | ND | 10% | / | 28% | 47% (BM), 88% (H) | Healthy |  |
| 7 | 3271 | m.3271T\>C | T3271C\-F4 | T3271C\-F4\-III7 | Fam | F | Y | Y | A | 7 | 31% | / | 60% | 82% (BM), 60% (H) | Migraine, short stature, seizures, psychomotor retardation, cortical blindness |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).