T8993G-F4

**Figure 1\. Pedigree diagram for family T8993G\-F4\.**

![](/media/202606/T8993G-F4-pedigree_20260630235801487349.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 | 8993 | m.8993T\>G | T8993G\-F4 | Chinese | Leigh syndrome; hypertrophic cardiomyopathy | 1 | 2 | 1994 | [8042671](https://pubmed.ncbi.nlm.nih.gov/8042671/) | Stillborn sister and older sibling with sudden infant death had no molecular testing in this paper. |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F4 from Chinese with leigh syndrome; hypertrophic cardiomyopathy. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, hypertrophic cardiomyopathy, developmental delay, hypotonia, lactic acidosis, sudden infant death syndrome, stillborn.

# 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 | 8993 | m.8993T\>G | T8993G\-F4 | T8993G\-F4\-III3 | Fam | M | Y | Y | D | 6mo | / | 90% | / | 84%(MYOBLASTCULTURE); 90%(F) | Leigh syndrome; hypertrophic cardiomyopathy; developmental delay; hypotonia; lactic acidosis |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F4 | T8993G\-F4\-III2 | Fam | M | N | Y | D | 2mo | / |  |  |  | sudden infant death syndrome |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F4 | T8993G\-F4\-III1 | Fam | F | N | Y | D | 0 | / |  |  |  | stillborn |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F4 | T8993G\-F4\-II2 | Uninf | F | N | N | A | ND | 38% | / | / | / | Healthy |  |

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