A4267G

# **General Information**

| **Position** | **4267** | **Variant** | **m.4267A\>G** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 71\.10% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.4267A\>G** variant in MT\-TI has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 1% to 88%, with a median of 24% overall; affected carriers showed mutation loads from 1% to 88%, with a median of 24%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (2%), muscle (88%), and bone marrow (24%) than in hair (1%). The main clinical manifestations among affected carriers included CPEO, mitochondrial myopathy, deafness, fatigue, headaches, mental slowing, muscle ache, slurring of speech, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4267 | m.4267A\>G | A4267G\-F1 | Netherlands | CPEO | NA | NA | 2007 | [17965958](https://pubmed.ncbi.nlm.nih.gov/17965958/) |  |
| 2 | 4267 | m.4267A\>G | A4267G\-F2 | UK | Mitochondrial myopathy | 3 | 0 | 2002 | [12207935](https://pubmed.ncbi.nlm.nih.gov/12207935/) |  |

# **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 | 4267 | m.4267A\>G | A4267G\-F1 | A4267G\-F1\-P1 | Uninf | F | Y | Y | A | 52 | / | 50% | / | / | CPEO |  |
| 2 | 4267 | m.4267A\>G | A4267G\-F2 | A4267G\-F2\-II2 | De novo | F | Y | Y | A | 37 | 2% | 88% | / | 24%(BM),1%(H) | Mitochondrial myopathy, fatigue, mental slowing, deafness, slurring of speech, unsteadiness, muscle ache, headaches |  |

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