A8527G-F2

**Figure 1\. Pedigree diagram for family A8527G\-F2\.**

![](/media/202606/20260630140532399752.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8527 | m.8527A\>G | A8527G\-F2 | Tunisia | Dilated mitochondrial cardiomyopathy; hearing impairment | 0 | 2 | 2017 | [28104394](https://pubmed.ncbi.nlm.nih.gov/28104394/) | Carrying m.1555A\>G and m.8932C\>T |

The **m.8527A\>G** variant in MT\-ATP8/6 was reported in family A8527G\-F2 from Tunisia with dilated mitochondrial cardiomyopathy; hearing impairment. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was dilated mitochondrial cardiomyopathy, respiratory distress, elevated lactate, hepatomegaly, moderate hearing loss.

# 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 | 8527 | m.8527A\>G | A8527G\-F2 | A8527G\-F2\-II4 | Fam | M | Y | Y | D | 10mo | Homo | / | / | / | Dilated mitochondrial cardiomyopathy; respiratory distress; elevated lactate; hepatomegaly | Carrying m.1555A\>G and m.8932C\>T |
| 2 | 8527 | m.8527A\>G | A8527G\-F2 | A8527G\-F2\-I1 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Moderate hearing loss | Carrying m.1555A\>G and m.8932C\>T |
| 3 | 8527 | m.8527A\>G | A8527G\-F2 | A8527G\-F2\-II1 | Fam | M | N | Y | A | 11 | Homo | / | / | / | Moderate hearing loss | Carrying m.1555A\>G and m.8932C\>T |

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