C8561T

# **General Information**

| **Position** | **8561** | **Variant** | **m.8561C\>T** | **Locus** | **MT\-ATP8/6** | **Amino\-AcidChange** | **ATP8:P66S ATP6:P12L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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\>T** variant in MT\-ATP8/6 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 12% to 96%, with a median of 12% overall; affected carriers showed mutation loads from 96%, with a median of 96%; unaffected carriers showed mutation loads from 12%, with a median of 12%. The main clinical manifestations among affected carriers included early\-onset ataxia, leigh syndrome\-like basal ganglia lesions, microcephaly, and psychomotor delay.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8561 | m.8561C\>T | C8561T\-F1 | France | Early\-onset neurologic disease with Leigh\-like MRI | 1 | 0 | 2019 | [31788426](https://pubmed.ncbi.nlm.nih.gov/31788426/) |  |

# **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\>T | C8561T\-F1 | C8561T\-F1\-II1 | Fam | M | Y | Y | A | 13 | 96% | 96% | / | / | Early\-onset ataxia; psychomotor delay; microcephaly; Leigh syndrome\-like basal ganglia lesions |  |
| 2 | 8561 | m.8561C\>T | C8561T\-F1 | C8561T\-F1\-I2 | Uninf | F | N | N | A | ND | 12% | / | 12% | 12%(BM) | Healthy |  |

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