G4296A-F4

**Figure 1\. Pedigree diagram for family G4296A\-F4\.**

![](/media/202607/G4296A-F4-pedigree_20260701023307206144.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\-F4 | China | Leigh Syndrome | 2 | 0 | 2019 | <https://d.wanfangdata.com.cn/periodical/zgsyzdx201905039> | Carrying NUBPL c.C169G |

The **m.4296G\>A** variant in MT\-TI was reported in family G4296A\-F4 from China 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\-F4 | G4296A\-F4\-I2 | Uninf | F | N | N | A | ND | 6\.77% | / | / | / | Healthy |  |
| 2 | 4296 | m.4296G\>A | G4296A\-F4 | G4296A\-F4\-II1 | Fam | F | N | N | A | 10 | / | / | / | / | Healthy |  |
| 3 | 4296 | m.4296G\>A | G4296A\-F4 | G4296A\-F4\-II2 | Fam | F | Y | Y | A | 4 | / | / | / | 88\.5%(Cerebrospinal fluid) | Leigh Syndrome | Carrying NUBPL c.C169G |

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