A8296G-F25

**Figure 1\. Pedigree diagram for family A8296G\-F25\.**

![](/media/202607/A8296G-F25-pedigree_20260701023528210263.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 | 8296 | m.8296A\>G | A8296G\-F25 | Japan | Fatal hypertrophic obstructive cardiomyopathy / mitochondrial cardiomyopathy | 2 | 0 | 2000 | [10737988](https://pubmed.ncbi.nlm.nih.gov/10737988/) | / |

The **m.8296A\>G** variant in MT\-TK was reported in family A8296G\-F25 from Japan with fatal hypertrophic obstructive cardiomyopathy / mitochondrial cardiomyopathy. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was fatal hypertrophic cardiomyopathy, neonatal tachypnea, hypotonia, muscle weakness, hepatomegaly, cardiomegaly, metabolic acidosis, elevated 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 | 8296 | m.8296A\>G | A8296G\-F25 | A8296G\-F25\-II1 | Fam | F | Y | Y | D | 8 days | / | 96% | / | 97% (Heart); 97% (Liver); 95% (Spleen); 97% (Pancreas); 95% (Kidney); 97% (Lung); 92% (Brain) | Fatal hypertrophic cardiomyopathy; neonatal tachypnea; hypotonia; muscle weakness; hepatomegaly; cardiomegaly; metabolic acidosis; elevated lactate/pyruvate/ammonia | Autopsy tissue mutation loads from Figure 2\. |
| 2 | 8296 | m.8296A\>G | A8296G\-F25 | A8296G\-F25\-II2 | Fam | F | N | N | A | ND | 93% | / | / | / | Healthy | WBC mutation load from Figure 2/text. |
| 3 | 8296 | m.8296A\>G | A8296G\-F25 | A8296G\-F25\-I1 | uninf | F | N | N | A | ND | 93% | / | / | / | Healthy | WBC mutation load from Figure 2/text. |

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