C8561G-F1

**Figure 1\. Pedigree diagram for family C8561G\-F1\.**

![](/media/202606/20260630140725768217.png)

# Pedigree Information

| **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 | Finland | Ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism | 3 | 1 | 2016 | [27502083](https://pubmed.ncbi.nlm.nih.gov/27502083/) |  |

The **m.8561C\>G** variant in MT\-ATP8/6 was reported in family C8561G\-F1 from Finland with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was cerebellar ataxia, peripheral neuropathy, diabetes mellitus, sensorineural hearing impairment, hypergonadotropic hypogonadism.

# 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 |  |

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