A9115G-F2

**Figure 1\. Pedigree diagram for family A9115G\-F2\.**

![](/media/202607/A9115G-F2-pedigree_20260701003612962937.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9115 | m.9115A\>G | A9115G\-F2 | Japan | Bipolar disorder/depression with epilepsy | 3 | 4 | 2007 | [17320116](https://pubmed.ncbi.nlm.nih.gov/17320116/) |  |

The **m.9115A\>G** variant in MT\-ATP6 was reported in family A9115G\-F2 from Japan with bipolar disorder/depression with epilepsy. The pedigree record reported 3 unaffected and 4 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was major depression, psychotic disorder nos, epilepsy, seizures, frontal lobe syndrome., bipolar disorder..

# 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 | 9115 | m.9115A\>G | A9115G\-F2 | A9115G\-F2\-II5 | Fam | F | Y | Y | A | 48 | Homo | / | / | / | Major depression; psychotic disorder NOS; epilepsy/seizures; frontal lobe syndrome. |  |
| 2 | 9115 | m.9115A\>G | A9115G\-F2 | A9115G\-F2\-II4 | Fam | M | N | Y | A | ND | / | / | / | / | Bipolar disorder. |  |

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