G9026A-F2

**Figure 1\. Pedigree diagram for family G9026A\-F2\.**

![](/media/202607/G9026A-F2-pedigree_20260701003851302464.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 | 9026 | m.9026G\>A | G9026A\-F2 | USA | Multisystem mitochondrial disease | 1 | 1 | 2019 | [30763462](https://pubmed.ncbi.nlm.nih.gov/30763462/) |  |

The **m.9026G\>A** variant in MT\-ATP6 was reported in family G9026A\-F2 from USA with multisystem mitochondrial disease. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was intellectual disability, dysautonomia, headaches, myalgias, fatigue, small fiber neuropathy, irritable bowel, frequent choking.

# 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 | 9026 | m.9026G\>A | G9026A\-F2 | G9026A\-F2\-II1 | Fam | M | Y | Y | A | 11 | 17\.7\-19\.8% | 16\.4% | / | 22\.6%(F) | Intellectual disability; dysautonomia; headaches; myalgias; fatigue |  |
| 2 | 9026 | m.9026G\>A | G9026A\-F2 | G9026A\-F2\-I2 | Uninf | F | N | Y | A | 46 | 4\.6% | / | 8\.1% | / | Small fiber neuropathy; headaches; fatigue; myalgias; irritable bowel; frequent choking |  |

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