A3302G-F3

**Figure 1\. Pedigree diagram for family A3302G\-F3\.**

![](/media/202606/20260630203911525066.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3302 | m.3302A\>G | A3302G\-F3 | China | Insulin resistance in woman with PCOS | 2 | 2 | 2016 | [26335180](https://pubmed.ncbi.nlm.nih.gov/26335180/) |  |

The **m.3302A\>G** variant in MT\-TL1 was reported in family A3302G\-F3 from China with insulin resistance in woman with pcos. The pedigree record reported 2 unaffected and 2 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was diabetes mellitus, pcos\-insulin resistance.

# 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 | 3302 | m.3302A\>G | A3302G\-F3 | A3302G\-F3\-I2 | Uninf | F | N | Y | A | ND | / | / | / | / | Diabetes mellitus |  |
| 2 | 3302 | m.3302A\>G | A3302G\-F3 | A3302G\-F3\-II1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 3302 | m.3302A\>G | A3302G\-F3 | A3302G\-F3\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 3302 | m.3302A\>G | A3302G\-F3 | A3302G\-F3\-II6 | Fam | F | N | Y | A | ND | / | / | / | / | Diabetes mellitus |  |
| 5 | 3302 | m.3302A\>G | A3302G\-F3 | A3302G\-F3\-III4 | Fam | F | Y | Y | A | 28 | / | / | / | / | PCOS\-Insulin resistance |  |

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