A3261G-F1

**Figure 1\. Pedigree diagram for family A3261G\-F1\.**

![](/media/202607/A3261G-F1-pedigree_20260701032043853038.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 | 3261 | m.3261A\>G | A3261G\-F1 | China | Essential hypertension | 4 | 3 | 2022 | [35657541](https://pubmed.ncbi.nlm.nih.gov/35657541/) |  |

The **m.3261A\>G** variant in MT\-TL1 was reported in family A3261G\-F1 from China with essential hypertension. The pedigree record reported 4 unaffected and 3 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 4/8 listed carriers; 4/8 carriers were affected, and the main clinical manifestation among affected carriers was essential hypertension.

# 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 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 2 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-II5 | Fam | M | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 5 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-II8 | Fam | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 6 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-III1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 7 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 8 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-III3 | Fam | M | Y | Y | A | ND | Homo | / | / | / | Essential hypertension |  |

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