A8343G-F2

**Figure 1\. Pedigree diagram for family A8343G\-F2\.**

![](/media/202607/A8343G-F2-pedigree_20260701023619090635.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 | 8343 | m.8343A\>G | A8343G\-F2 | China | Polycystic ovary syndrome and metabolic syndrome | 2 | 4 | 2018 | [29155328](https://pubmed.ncbi.nlm.nih.gov/29155328/) | / |

The **m.8343A\>G** variant in MT\-TK was reported in family A8343G\-F2 from China with polycystic ovary syndrome and metabolic syndrome. 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 2 diabetes mellitus, hypertension, polycystic ovary syndrome, abnormal menstruation.

# 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 | 8343 | m.8343A\>G | A8343G\-F2 | A8343G\-F2\-II1 | Fam | M | N | Y | A | 66 | Homo | / | / | / | Metabolic syndrome; type 2 diabetes mellitus | Carrying C3275T and T4363C. |
| 2 | 8343 | m.8343A\>G | A8343G\-F2 | A8343G\-F2\-II2 | Fam | M | N | Y | A | 59 | Homo | / | / | / | Metabolic syndrome; hypertension | Carrying C3275T and T4363C. |
| 3 | 8343 | m.8343A\>G | A8343G\-F2 | A8343G\-F2\-II3 | Fam | F | N | Y | A | 55 | Homo | / | / | / | Metabolic syndrome; type 2 diabetes mellitus | Carrying C3275T and T4363C. |
| 4 | 8343 | m.8343A\>G | A8343G\-F2 | A8343G\-F2\-III1 | Fam | F | Y | Y | A | 31 | Homo | / | / | / | Polycystic ovary syndrome; abnormal menstruation | Carrying C3275T and T4363C. |

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