A7543G

# **General Information**

| **Position** | **7543** | **Variant** | **m.7543A\>G** | **Locus** | **MT\-TD** | **RNA** | **tRNA Asp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 67\.30% | **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.7543A\>G** variant in MT\-TD has been reported in 1 pedigree. To date, 7 carriers have been reported. Reported mutation loads ranged from 81\.8% to 98%, with a median of 92% overall; affected carriers showed mutation loads from 81\.8% to 98%, with a median of 92\.4%; unaffected carriers showed mutation loads from 88\.3%, with a median of 88\.3%. The main clinical manifestations among affected carriers included hyperactivity, generalized tonic\-clonic seizures, intermittent jerky movements, mental retardation and grand mal seizures, severe behavioral problems, aggression, attention deficit hyperactivity disorder, behavioral problems, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7543 | m.7543A\>G | [A7543G\-F1](https://mitofam.com/doc/565/) | USA | Myoclonic epilepsy and psychomotor regression | 7 | 3 | 1999 | [10488907](https://pubmed.ncbi.nlm.nih.gov/10488907/) |  |

# **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 | 7543 | m.7543A\>G | A7543G\-F1 | A7543G\-F1\-III2 | Fam | F | Y | Y | A | 7 | 92\.8% | \>98% | / | \>98% (F) | Intermittent jerky movements, headache, photophobia, dysarthria, nystagmus, hypotonia, dysmorphic features, nocturnal enuresis, seizures, hyperactivity, attention deficit hyperactivity disorder, behavioral problems, learning disability, language impairment |  |
| 2 | 7543 | m.7543A\>G | A7543G\-F1 | A7543G\-F1\-I2 | Uninf | F | N | Y | A | 30 | 81\.8% | / | / | / | Generalized tonic\-clonic seizures |  |
| 3 | 7543 | m.7543A\>G | A7543G\-F1 | A7543G\-F1\-II3 | Fam | F | N | Y | A | 6 | 88% | / | / | / | Mental retardation and grand mal seizures |  |
| 4 | 7543 | m.7543A\>G | A7543G\-F1 | A7543G\-F1\-II4 | Fam | F | N | N | A | ND | 88\.3% | / | / | / | Healthy |  |
| 5 | 7543 | m.7543A\>G | A7543G\-F1 | A7543G\-F1\-III3 | Fam | M | N | Y | A | 7 | 92% | / | / | / | Severe behavioral problems, hyperactivity, inattention, impulsivity, aggression, self\-destructive behavior, low IQ |  |
| 6 | 7543 | m.7543A\>G | A7543G\-F1 | A7543G\-F1\-II5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 7 | 7543 | m.7543A\>G | A7543G\-F1 | A7543G\-F1\-III4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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