A4263G-F1

**Figure 1\. Pedigree diagram for family A4263G\-F1\.**

![](/media/202607/A4263G-F1-pedigree_20260701023007011850.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\-F1 | China | Essential hypertension | 11 | 14 | 2011 | [21454794](https://pubmed.ncbi.nlm.nih.gov/21454794/) |  |

The **m.4263A\>G** variant in MT\-TI was reported in family A4263G\-F1 from China with essential hypertension. The pedigree record reported 11 unaffected and 14 affected maternal relatives, and the carrier table includes 27 listed carriers. Homoplasmy was reported in all listed carriers; 15/27 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\-F1 | A4263G\-F1\-I2 | Uninf | F | N | Y | D | ND | Homo | / | / | / | Essential hypertension |  |
| 2 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-II2 | Fam | F | N | Y | A | 79 | Homo | / | / | / | Essential hypertension |  |
| 3 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-II4 | Fam | F | N | Y | A | 72 | Homo | / | / | / | Essential hypertension |  |
| 4 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-II5 | Fam | M | N | Y | A | 82 | Homo | / | / | / | Essential hypertension |  |
| 5 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-II7 | Fam | M | N | Y | A | 68 | Homo | / | / | / | Essential hypertension |  |
| 6 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III2 | Fam | F | N | Y | A | 54 | Homo | / | / | / | Essential hypertension |  |
| 7 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III4 | Fam | F | N | Y | A | 48 | Homo | / | / | / | Essential hypertension |  |
| 8 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III5 | Fam | M | N | N | A | 42 | Homo | / | / | / | Healthy |  |
| 9 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III7 | Fam | M | N | N | A | 44 | Homo | / | / | / | Healthy |  |
| 10 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III9 | Fam | M | N | Y | A | 40 | Homo | / | / | / | Essential hypertension |  |
| 11 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III11 | Fam | M | N | Y | A | 56 | Homo | / | / | / | Essential hypertension |  |
| 12 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III14 | Fam | F | Y | Y | A | 48 | Homo | / | / | / | Essential hypertension |  |
| 13 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III16 | Fam | F | N | N | A | 45 | Homo | / | / | / | Healthy |  |
| 14 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III18 | Fam | F | N | Y | A | 52 | Homo | / | / | / | Essential hypertension |  |
| 15 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III19 | Fam | M | N | N | A | 33 | Homo | / | / | / | Healthy |  |
| 16 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV1 | Fam | F | N | Y | A | 31 | Homo | / | / | / | Essential hypertension |  |
| 17 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV3 | Fam | F | N | Y | A | 26 | Homo | / | / | / | Essential hypertension |  |
| 18 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV5 | Fam | M | N | Y | A | 25 | Homo | / | / | / | Essential hypertension |  |
| 19 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV6 | Fam | M | N | N | A | 24 | Homo | / | / | / | Healthy |  |
| 20 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV7 | Fam | M | N | Y | A | 23 | Homo | / | / | / | Essential hypertension |  |
| 21 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV8 | Fam | F | N | N | A | 21 | Homo | / | / | / | Healthy |  |
| 22 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV21 | Fam | F | N | N | A | 24 | Homo | / | / | / | Healthy |  |
| 23 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV22 | Fam | F | N | N | A | 18 | Homo | / | / | / | Healthy |  |
| 24 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV23 | Fam | M | N | N | A | 25 | Homo | / | / | / | Healthy |  |
| 25 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-V1 | Fam | M | N | N | A | 5 | Homo | / | / | / | Healthy |  |
| 26 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-V2 | Fam | M | N | N | A | 6 | Homo | / | / | / | Healthy |  |
| 27 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-V3 | Fam | F | N | N | A | 4 | Homo | / | / | / | Healthy |  |

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