A10450G

# **General Information**

| **Position** | **10450** | **Variant** | **m.10450A\>G** | **Locus** | **MT\-TR** | **RNA** | **tRNA Arg** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 69\.60% | **Pathogenicity** | Reported \[VUS] |

"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.10450A\>G** variant in MT\-TR has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 93%, with a median of 55% overall; affected carriers showed mutation loads from 92% to 93%, with a median of 92\.5%; unaffected carriers showed mutation loads from 0% to 18%, with a median of 9%. The main clinical manifestations among affected carriers included premature birth, west syndrome, anemia, central visual perception loss, dependence on tube feeding, epilepsy, feeding difficulty, growth retardation, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10450 | m.10450A\>G | [A10450G\-F1](https://mitofam.com/doc/704/) | Netherlands | Combined OXPHOS defects \& severe multisystem disorder | 1 | 0 | 2010 | [19809478](https://pubmed.ncbi.nlm.nih.gov/19809478/) |  |

# **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 | 10450 | m.10450A\>G | A10450G\-F1 | A10450G\-F1\-II1 | Fam | M | Y | Y | A | 0\.67 | / | 93% | / | 92%(F) | Premature birth, low birth weight, short stature, microcephaly, severe generalized hypotonia, respiratory insufficiency, feeding difficulty, anemia, severe psychomotor retardation, growth retardation, visual dysfunction, epilepsy, West syndrome, intractable BNS\-type seizures, central visual perception loss, hyporeflexia, severe intellectual disability, no visual or auditory contact, dependence on tube feeding |  |
| 2 | 10450 | m.10450A\>G | A10450G\-F1 | A10450G\-F1\-I2 | Uninf | F | N | N | A | ND | 0 | / | / | 18%(F) | Healthy |  |

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