A4263G-F2

**Figure 1\. Pedigree diagram for family A4263G\-F2\.**

![](/media/202607/A4263G-F2-pedigree_20260701023015945143.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 | 4263 | m.4263A\>G | A4263G\-F2 | China | Essential hypertension | 3 | 7 | 2008 | [https://kns.cnki.net/kcms2/article/abstract?v\=zO3wb1M9ekwKv4DSKxrru7xQmG9hpzJIuyvii0xZz3NiJ3adhRQTeOMFaWx7TI8K3q064j\-N\_\_Dj1hYwtp2wW6YZIzT2mXNYyGIyrAmGT2lWdoKkCUIPdy1xx14M0hjrh3MLIKprndC59y7rWZyhrM4pmKDPnEjQQQ98fbmjObs\=\&uniplatform\=NZKPT](https://kns.cnki.net/kcms2/article/abstract?v=zO3wb1M9ekwKv4DSKxrru7xQmG9hpzJIuyvii0xZz3NiJ3adhRQTeOMFaWx7TI8K3q064j-N__Dj1hYwtp2wW6YZIzT2mXNYyGIyrAmGT2lWdoKkCUIPdy1xx14M0hjrh3MLIKprndC59y7rWZyhrM4pmKDPnEjQQQ98fbmjObs=&uniplatform=NZKPT) |  |

The **m.4263A\>G** variant in MT\-TI was reported in family A4263G\-F2 from China with essential hypertension. The pedigree record reported 3 unaffected and 7 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in all listed carriers; 8/11 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 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 2 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-II3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 4 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-II5 | Fam | M | Y | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 5 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-II8 | Fam | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 6 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-II9 | Fam | M | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 7 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-III1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 8 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-III3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 9 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-III8 | Fam | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 10 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-IV1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 11 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-IV3 | Fam | M | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |

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