G8969A-F3

**Figure 1\. Pedigree diagram for family G8969A\-F3\.**

![](/media/202607/G8969A-F3-pedigree_20260701003801432771.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 | 8969 | m.8969G\>A | G8969A\-F3 | Finland | Mild MT\-ATP6\-associated mitochondrial disease | 3 | 1 | 2018 | [29350304](https://pubmed.ncbi.nlm.nih.gov/29350304/) |  |

The **m.8969G\>A** variant in MT\-ATP6 was reported in family G8969A\-F3 from Finland with mild mt\-atp6\-associated mitochondrial disease. 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 poor growth, developmental delay, intellectual disability, elevated lactate, mild intellectual disability, adhd, elevated csf lactate.

# 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 | 8969 | m.8969G\>A | G8969A\-F3 | G8969A\-F3\-III4 | Fam | F | Y | Y | A | 5 | / | 95% | / | 96%(F) | Poor growth; developmental delay; intellectual disability; elevated lactate |  |
| 2 | 8969 | m.8969G\>A | G8969A\-F3 | G8969A\-F3\-III1 | Fam | M | N | Y | A | 9 | 79% | / | / | / | Mild intellectual disability; ADHD; elevated CSF lactate |  |
| 3 | 8969 | m.8969G\>A | G8969A\-F3 | G8969A\-F3\-III2 | Fam | M | N | N | A | ND | 18% | / | / | / | Healthy |  |
| 4 | 8969 | m.8969G\>A | G8969A\-F3 | G8969A\-F3\-III3 | Fam | M | N | N | A | ND | 4% | / | / | / | Healthy |  |
| 5 | 8969 | m.8969G\>A | G8969A\-F3 | G8969A\-F3\-II9 | Uninf | F | N | N | A | ND | 9% | / | / | / | Healthy |  |

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