C3275T-F1

**Figure 1\. Pedigree diagram for family C3275T\-F1\.**

![](/media/202607/C3275T-F1-pedigree_20260701032100842127.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 | 3275 | m.3275C\>T | C3275T\-F1 | China | PCOS, metabolic syndrome | 2 | 4 | 2018 | [29155328](https://pubmed.ncbi.nlm.nih.gov/29155328/) | Carrying T4363C and A8343G |

The **m.3275C\>T** variant in MT\-TL1 was reported in family C3275T\-F1 from China with pcos, metabolic syndrome. The pedigree record reported 2 unaffected and 4 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in all listed carriers; 5/7 carriers were affected, and the main clinical manifestation among affected carriers was metabolic syndrome, diabetes mellitus, hypertension, pcos.

# 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 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-I2 | Uninf | F | N | Y | D | ND | Homo | / | / | / | PCOS, metabolic syndrome | Carrying T4363C and A8343G |
| 2 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-II1 | Fam | M | N | Y | A | 66 | Homo | / | / | / | Metabolic syndrome, diabetes mellitus | Carrying T4363C and A8343G |
| 3 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-II3 | Fam | M | N | Y | A | 59 | Homo | / | / | / | Metabolic syndrome, hypertension | Carrying T4363C and A8343G |
| 4 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-II6 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T4363C and A8343G |
| 5 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-II8 | Fam | F | N | Y | A | 55 | Homo | / | / | / | Metabolic syndrome, diabetes mellitus | Carrying T4363C and A8343G |
| 6 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-III3 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T4363C and A8343G |
| 7 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-III4 | Fam | F | Y | Y | A | 31 | Homo | / | / | / | PCOS | Carrying T4363C and A8343G |

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