G4296A-F1

**Figure 1\. Pedigree diagram for family G4296A\-F1\.**

![](/media/202607/G4296A-F1-pedigree_20260701023235826581.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 | 4296 | m.4296G\>A | G4296A\-F1 | Spain | Leigh syndrome | 2 | 0 | 2012 | [21982779](https://pubmed.ncbi.nlm.nih.gov/21982779/) |  |

The **m.4296G\>A** variant in MT\-TI was reported in family G4296A\-F1 from Spain with leigh syndrome. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome.

# 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 | 4296 | m.4296G\>A | G4296A\-F1 | G4296A\-F1\-I2 | Uninf | F | N | N | A | ND | 4% | / | 4% | 4%(BM) | Healthy |  |
| 2 | 4296 | m.4296G\>A | G4296A\-F1 | G4296A\-F1\-II1 | Fam | F | N | N | A | ND | 4% | / | 4% | 4%(BM) | Healthy |  |
| 3 | 4296 | m.4296G\>A | G4296A\-F1 | G4296A\-F1\-II2 | Fam | F | Y | Y | A | 6 | 78% | / | / | 85%(F) | Leigh syndrome |  |

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