T8528C-F8

**Figure 1\. Pedigree diagram for family T8528C\-F8\.**

![](/media/202606/20260630141124012605.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8528 | m.8528T\>C | T8528C\-F8 | Croatia | ATP synthase deficiency with neonatal hyperammonemia and cardiomyopathy | 1 | 0 | 2021 | [33180048](https://pubmed.ncbi.nlm.nih.gov/33180048/) |  |

The **m.8528T\>C** variant in MT\-ATP8/6 was reported in family T8528C\-F8 from Croatia with atp synthase deficiency with neonatal hyperammonemia and cardiomyopathy. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was neonatal hyperammonemia, hypertrophic cardiomyopathy, lactic acidosis, hypotonia, nystagmus.

# 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 | 8528 | m.8528T\>C | T8528C\-F8 | T8528C\-F8\-II1 | Fam | F | Y | Y | D | 2\.5mo | Homo | / | / | / | Neonatal hyperammonemia; hypertrophic cardiomyopathy; lactic acidosis; hypotonia; nystagmus |  |
| 2 | 8528 | m.8528T\>C | T8528C\-F8 | T8528C\-F8\-I2 | Uninf | F | N | N | A | ND | 82% | / | 89% | 59%(Saliva) | Almost asymptomatic; short stature; migraines; microprolactinoma; miscarriages |  |

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