G4298A-F2

**Figure 1\. Pedigree diagram for family G4298A\-F2\.**

![](/media/202607/G4298A-F2-pedigree_20260701023325469564.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 | 4298 | m.4298G\>A | G4298A\-F2 | UK | Chronic progressive external ophthalmoplegia, multiple sclerosis | 2 | 0 | 1998 | [9473477](https://pubmed.ncbi.nlm.nih.gov/9473477/) |  |

The **m.4298G\>A** variant in MT\-TI was reported in family G4298A\-F2 from UK with chronic progressive external ophthalmoplegia, multiple sclerosis. 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 facial pain, trigeminal neuralgia, paresthesia, optic atrophy, nystagmus, ptosis, ophthalmoparesis, chronic progressive external ophthalmoplegia.

# 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 | 4298 | m.4298G\>A | G4298A\-F2 | G4298A\-F2\-I2 | Uninf | F | Y | Y | A | 49 | 0% | 56% | / | 4%(F),9%(BM) | Facial pain, trigeminal neuralgia, paresthesia, optic atrophy, nystagmus, ptosis, ophthalmoparesis, chronic progressive external ophthalmoplegia, multiple sclerosis |  |
| 2 | 4298 | m.4298G\>A | G4298A\-F2 | G4298A\-F2\-II1 | Fam | F | N | N | A | 20 | / | / | / | / | Healthy |  |
| 3 | 4298 | m.4298G\>A | G4298A\-F2 | G4298A\-F2\-II2 | Fam | F | N | N | A | 20 | / | / | / | / | Healthy |  |

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