C8561G

# **General Information**

| **Position** | **8561** | **Variant** | **m.8561C\>G** | **Locus** | **MT\-ATP8/6** | **Amino\-AcidChange** | **ATP8:P66A ATP6:P12R** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.8561C\>G** variant in MT\-ATP8/6 has been reported in 1 pedigree. To date, 5 carriers have been reported. Reported mutation loads ranged from 3% to 99%, with a median of 99% overall; affected carriers showed mutation loads from 99%, with a median of 99%; unaffected carriers showed mutation loads from 3% to 20%, with a median of 11\.5%. In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (20%) than in blood (3%). In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (20%) than in blood (3%). Similar tissue\-specific differences were observed in 1 additional carriers. The main clinical manifestations among affected carriers included cerebellar ataxia, diabetes mellitus, hypergonadotropic hypogonadism, peripheral neuropathy, and sensorineural hearing impairment.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8561 | m.8561C\>G | [C8561G\-F1](https://mitofam.com/doc/1843/) | Finland | Ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism | 3 | 1 | 2016 | [27502083](https://pubmed.ncbi.nlm.nih.gov/27502083/) |  |

# **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 | 8561 | m.8561C\>G | C8561G\-F1 | C8561G\-F1\-II5 | Fam | F | Y | Y | A | 58 | \>99% | \>99% | / | \>99%(BM); \>99%(Myoblast) | Cerebellar ataxia; peripheral neuropathy; diabetes mellitus; sensorineural hearing impairment; hypergonadotropic hypogonadism |  |
| 2 | 8561 | m.8561C\>G | C8561G\-F1 | C8561G\-F1\-II4 | Fam | M | N | Y | A | 62 | \>99% | \>99% | / | \>99%(BM); \>99%(Myoblast) | Cerebellar ataxia; peripheral neuropathy; diabetes mellitus; sensorineural hearing impairment; hypergonadotropic hypogonadism |  |
| 3 | 8561 | m.8561C\>G | C8561G\-F1 | C8561G\-F1\-II1 | Fam | ND | N | N | A | 69 | 3\-20% | / | / | / | Healthy |  |
| 4 | 8561 | m.8561C\>G | C8561G\-F1 | C8561G\-F1\-II2 | Fam | F | N | N | A | 67 | 3\-20% | / | / | / | Healthy; coronary artery disease |  |
| 5 | 8561 | m.8561C\>G | C8561G\-F1 | C8561G\-F1\-II3 | Fam | M | N | N | A | 66 | 3\-20% | / | / | / | Healthy |  |

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