T4363C-F1

**Figure 1\. Pedigree diagram for family T4363C\-F1\.**

![](/media/202606/20260622170248854818.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4363 | m.4363T\>C | T4363C\-F1 | China | Polycystic Ovary Syndrome, Metabolic Syndrome ,Type II diabetes,hypertension | 2 | 4 | 2018 | [29155328](https://pubmed.ncbi.nlm.nih.gov/29155328/) | Carrying C3275T,A8343G |

The **m.4363T\>C** variant in MT\-TQ was reported in family T4363C\-F1 from China with polycystic ovary syndrome, metabolic syndrome ,type ii diabetes,hypertension. The pedigree record reported 2 unaffected and 4 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was metabolic syndrome, type ii diabetes, hypertension, polycystic ovary syndrome.

# 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 | 4363 | m.4363T\>C | T4363C\-F1 | T4363C\-F1\-II1 | Fam | M | N | Y | A | 66 | Homo | / | / | / | Metabolic syndrome, Type II diabetes | Carrying C3275T,A8343G |
| 2 | 4363 | m.4363T\>C | T4363C\-F1 | T4363C\-F1\-II3 | Fam | M | N | Y | A | 59 | Homo | / | / | / | Metabolic syndrome, hypertension | Carrying C3275T,A8343G |
| 3 | 4363 | m.4363T\>C | T4363C\-F1 | T4363C\-F1\-II8 | Fam | F | N | Y | A | 55 | Homo | / | / | / | Metabolic syndrome, Type II diabetes | Carrying C3275T,A8343G |
| 4 | 4363 | m.4363T\>C | T4363C\-F1 | T4363C\-F1\-III4 | Fam | F | Y | Y | A | 31 | Homo | / | / | / | Polycystic ovary syndrome | Carrying C3275T,A8343G |

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