A8527G

# **General Information**

| **Position** | **8527** | **Variant** | **m.8527A\>G** | **Locus** | **MT\-ATP8/6** | **Amino\-AcidChange** | **ATP8:K54K ATP6:M1M** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-benign | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.8527A\>G** variant in MT\-ATP8/6 has been reported in 2 pedigrees. To date, 4 carriers have been reported. Homoplasmy was reported in 4/4 carriers (100%), and 4/4 carriers (100%) were affected. The main clinical manifestations among affected carriers included moderate hearing loss, dilated mitochondrial cardiomyopathy, psychomotor retardation, abnormal brain MRI, elevated lactate, hepatomegaly, hypotonia, raised blood pyruvate, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8527 | m.8527A\>G | A8527G\-F1 | Tunisia | Mitochondrial neuromuscular disorder | 0 | 0 | 2016 | [26993169](https://pubmed.ncbi.nlm.nih.gov/26993169/) |  |
| 2 | 8527 | m.8527A\>G | [A8527G\-F2](https://mitofam.com/doc/1836/) | 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 |

# **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\-F1 | A8527G\-F1\-II1 | Uninf | M | Y | Y | A | 7 | Homo | / | / | / | Psychomotor retardation; hypotonia; seizures; abnormal brain MRI; raised blood pyruvate |  |
| 2 | 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 |
| 3 | 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 |
| 4 | 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 |

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