T3271C-F3

**Figure 1\. Pedigree diagram for family T3271C\-F3\.**

![](/media/202607/T3271C-F3-pedigree_20260701032143510208.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\-F3 | USA | MELAS | 10 | 15 | 2005 | [15794182](https://pubmed.ncbi.nlm.nih.gov/15794182/) |  |

The **m.3271T\>C** variant in MT\-TL1 was reported in family T3271C\-F3 from USA with melas. The pedigree record reported 10 unaffected and 15 affected maternal relatives, and the carrier table includes 26 listed carriers. Homoplasmy was reported in 0/26 listed carriers; 19/26 carriers were affected, and the main clinical manifestation among affected carriers was stroke, migraine, hyperthyroidism, short stature, fatigue, muscle weakness, seizures, strokes.

# 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\-F3 | T3271C\-F3\-I2 | Uninf | F | N | Y | A | ND | / | / | / | / | Stroke |  |
| 2 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-II1 | Fam | F | N | Y | A | ND | \<5% | / | 35% | / | Migraine |  |
| 3 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | Migraine,stroke |  |
| 4 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-II3 | Fam | F | N | Y | A | ND | \<5% | / | 43% | / | Migraine, hyperthyroidism |  |
| 5 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-II4 | Fam | F | N | Y | A | ND | / | / | / | / | Migraine |  |
| 6 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-II5 | Fam | F | N | Y | A | ND | / | / | / | / | Migraine |  |
| 7 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-III1 | Fam | F | N | Y | A | ND | \<5% | / | 58% | / | Migraine, short stature |  |
| 8 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-III2 | Fam | F | N | Y | A | ND | \<5% | / | 67% | / | Migraine, fatigue, muscle weakness |  |
| 9 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-III3 | Fam | F | N | Y | A | ND | / | / | 57% | / | Migraine |  |
| 10 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-III4 | Fam | M | Y | Y | D | 14 | / | / | / | / | Migraine, seizures, strokes, deafness, cortical blindness |  |
| 11 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-III5 | Fam | M | N | Y | A | ND | \<5% | / | 9% | / | Migraine |  |
| 12 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-III6 | Fam | F | N | Y | A | ND | 26% | / | 71% | / | Migraine, muscle weakness, supraventricular tachycardia |  |
| 13 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-III8 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 14 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-III9 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 15 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-III10 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 16 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV1 | Fam | M | N | Y | A | ND | 29% | / | 98% | / | Migraine, short stature, deafness, muscle weakness, chronic vomiting |  |
| 17 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV2 | Fam | M | N | N | A | ND | / | / | / | / | Short stature |  |
| 18 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 19 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 20 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 21 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV6 | Fam | M | N | Y | A | ND | / | / | 67% | / | Headaches, short stature, muscle cramps |  |
| 22 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV7 | Fam | M | N | Y | A | ND | / | / | 71% | / | Headaches, attention\-deficit hyperactivity disorder |  |
| 23 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV8 | Fam | M | N | Y | A | ND | / | / | \<5% | / | Muscle cramps |  |
| 24 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV9 | Fam | M | N | Y | A | ND | / | / | 32% | / | MELAS |  |
| 25 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV10 | Fam | M | N | Y | A | \<5 | / | / | 45% | / | MELAS |  |
| 26 | 3271 | m.3271T\>C | T3271C\-F3 | T3271C\-F3\-IV11 | Fam | F | N | Y | A | \<5 | / | / | 98% | / | MELAS |  |

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