G10000A

# **General Information**

| **Position** | **10000** | **Variant** | **m.10000G\>A** | **Locus** | **MT\-TG** | **RNA** | **tRNA Gly** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 91\.70% | **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.10000G\>A** variant in MT\-TG has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 27\.3% to 56\.1%, with a median of 32\.7% overall; affected carriers showed mutation loads from 27\.3% to 56\.1%, with a median of 32\.7%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in urine (56\.1%) than in bone marrow (27\.3%). The main clinical manifestations among affected carriers included frequent vomiting, exercise intolerance, headache, hearing loss, hypothyroidism, increased hair on the back, limb weakness, peripheral neuropathy (axonal and demyelinating involvement), and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10000 | m.10000G\>A | G10000A\-F1 | China | Multisystem mitochondrial disorder | 0 | 0 | 2022 | [35432167](https://pubmed.ncbi.nlm.nih.gov/35432167/) |  |

# **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 | 10000 | m.10000G\>A | G10000A\-F1 | G10000A\-F1\-P1 | De novo | M | Y | Y | A | 13 | 32\.7% | / | 56\.15% | 27\.3% (BM) | Frequent vomiting, headache, limb weakness, hearing loss, hypothyroidism, exercise intolerance, short stature, thin build, increased hair on the back, positive bilateral Babinski's sign, widened aorta and ascending aorta, peripheral neuropathy (axonal and demyelinating involvement) |  |

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