G8969A-F5

**Figure 1\. Pedigree diagram for family G8969A\-F5\.**

![](/media/202607/G8969A-F5-pedigree_20260701003830555777.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\-F5 | China | IgA nephropathy; mitochondrial cytopathy | 1 | 0 | 2016 | [27812026](https://pubmed.ncbi.nlm.nih.gov/27812026/) |  |

The **m.8969G\>A** variant in MT\-ATP6 was reported in family G8969A\-F5 from China with iga nephropathy; mitochondrial cytopathy. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was iga nephropathy, renal relapse, oliguria, epileptic episodes, decreased muscle strength, brain atrophy, severe hearing impairment, wolff\-parkinson\-white syndrome.

# 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\-F5 | G8969A\-F5\-II1 | Fam | F | Y | Y | A | 14 | 61% | / | 79% | kidney: 89% | IgA nephropathy; renal relapse/oliguria; epileptic episodes; decreased muscle strength; brain atrophy; severe hearing impairment; Wolff\-Parkinson\-White syndrome; increased fasting glucose. |  |
| 2 | 8969 | m.8969G\>A | G8969A\-F5 | G8969A\-F5\-I2 | Uninf | F | N | N | A | ND | 49% | / | 57% | / | Healthy/asymptomatic. |  |

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