G4284A-F1

**Figure 1\. Pedigree diagram for family G4284A\-F1\.**

![](/media/202607/G4284A-F1-pedigree_20260701023218013067.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 | 4284 | m.4284G\>A | G4284A\-F1 | Italy | Spastic paraparesis, myoclonus, ataxia, dysarthria, ophthalmoparesis, hearing loss, cognitive impairment, epilepsy, diabetes, lipoma, hypogonadism, cardiomyopathy, heart failure | 2 | 6 | 2002 | [11782991](https://pubmed.ncbi.nlm.nih.gov/11782991/) |  |

The **m.4284G\>A** variant in MT\-TI was reported in family G4284A\-F1 from Italy with spastic paraparesis, myoclonus, ataxia, dysarthria, ophthalmoparesis, hearing loss, cognitive impairment, epilepsy, diabetes, lipoma, hypogonadism, cardiomyopathy, heart failure. The pedigree record reported 2 unaffected and 6 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was spastic paraparesis, genu valgum, clumsy walk, poroencephalic cavitation, corpus callosum atrophy, epilepsy, myoclonus, truncal ataxia.

# 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 | 4284 | m.4284G\>A | G4284A\-F1 | G4284A\-F1\-III2 | Fam | M | Y | Y | A | 35 | 20% | 55% | 40% | 50%(H),30%(F),20%(BM) | Spastic paraparesis, genu valgum, clumsy walk, poroencephalic cavitation, corpus callosum atrophy |  |
| 2 | 4284 | m.4284G\>A | G4284A\-F1 | G4284A\-F1\-III1 | Fam | M | N | Y | D | 27 | / | 90% | / | / | Epilepsy, myoclonus, truncal ataxia, dysarthria, dysmetria, deafness, mental deterioration, macular degeneration, hemiparesis, diabetes, lipoma, hypogonadism, dilated cardiomyopathy, heart failure |  |
| 3 | 4284 | m.4284G\>A | G4284A\-F1 | G4284A\-F1\-II2 | Fam | F | N | Y | A | 64 | 30% | 80% | 20% | / | Truncal ataxia, dysarthria, myoclonus, proximal weakness, ophthalmoparesis, hearing loss, mental regression, diabetes mellitus |  |
| 4 | 4284 | m.4284G\>A | G4284A\-F1 | G4284A\-F1\-III3 | Fam | M | N | N | A | 33 | 0% | / | 0% | / | Healthy |  |

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