C4467A

# General Information

| **Position** | **4467** | **Variant** | **m.4467C\>A** | **Locus** | **MT\-TM** | **RNA** | **tRNA Met** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 75\.60% | **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.4467C\>A** variant in MT\-TM has been reported in 1 pedigree. To date, 18 carriers have been reported. Reported mutation loads ranged from 60%, with a median of 60% overall; affected carriers showed mutation loads from 60%, with a median of 60%. The main clinical manifestations among affected carriers included dyslipidemia, hyperglycemia, metabolic disorder, treated hypertension, borderline hypertension (Proband), diastolic hypertension, early\-onset diastolic hypertension, early\-onset hypertension, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4467 | m.4467C\>A | [C4467A\-F1](https://mitofam.com/doc/662/) | China | Maternally inherited hypertension | 9 | 10 | 2017 | [28596595](https://pubmed.ncbi.nlm.nih.gov/28596595/) |  |

# 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 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-I4 | Uninf | F | N | Y | D | NA | / | / | / | / | Hypertension |  |
| 2 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-II5 | Fam | F | N | Y | A | 69 | / | / | / | / | Hypertension, Metabolic disorder |  |
| 3 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-II6 | Fam | M | N | N | A | 70 | / | / | / | / | Normotensive, Electrolyte disturbance |  |
| 4 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-II7 | Fam | F | N | Y | A | 71 | / | / | / | / | Systolic hypertension, Dyslipidemia |  |
| 5 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-II8 | Fam | F | N | N | A | 73 | / | / | / | / | Normotensive, Electrolyte disturbance |  |
| 6 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-II9 | Fam | F | N | N | A | 74 | / | / | / | / | Normotensive, Dyslipidemia |  |
| 7 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-III2 | Fam | F | N | Y | A | 52 | / | / | / | / | Severe hypertension, Severe hyperglycemia |  |
| 8 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-III4 | Fam | F | N | Y | A | 51 | / | / | / | / | Treated hypertension, Dyslipidemia |  |
| 9 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-III6 | Fam | F | N | Y | A | 50 | / | / | / | / | Treated hypertension, Metabolic disorder |  |
| 10 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-III8 | Fam | F | N | Y | A | 48 | / | / | / | / | Diastolic hypertension, Hyperglycemia |  |
| 11 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-III9 | Fam | F | N | Y | A | 40 | / | / | / | / | Early\-onset diastolic hypertension, Severe dyslipidemia |  |
| 12 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-III10 | Fam | M | Y | Y | A | 42 | \~60% | / | / | / | Borderline hypertension (Proband), Dyslipidemia |  |
| 13 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-IV1 | Fam | M | N | N | A | 21 | / | / | / | / | Healthy |  |
| 14 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-IV2 | Fam | F | N | N | A | 23 | / | / | / | / | Normotensive, Electrolyte disturbance |  |
| 15 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-IV3 | Fam | F | N | Y | A | 26 | / | / | / | / | Treated early\-onset hypertension |  |
| 16 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-IV4 | Fam | M | N | Y | A | 25 | / | / | / | / | Early\-onset hypertension, Hyperglycemia |  |
| 17 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-IV5 | Fam | M | N | N | A | 25 | / | / | / | / | Normotensive, Electrolyte disturbance |  |
| 18 | 4467 | m.4467C\>A | C4467A\-F1 | C4467A\-F1\-IV6 | Fam | F | N | N | A | 21 | / | / | / | / | Healthy |  |

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