T8993G-F15

**Figure 1\. Pedigree diagram for family T8993G\-F15\.**

![](/media/202607/T8993G-F15-pedigree_20260701000725652528.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\-F15 | United States | Leigh syndrome | 1 | 1 | 1993 | [8250532](https://pubmed.ncbi.nlm.nih.gov/8250532/) | case \#10,case \#11 |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F15 from United States with leigh syndrome. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, developmental delay, hypotonia, ophthalmoparesis, seizures, respiratory impairment.

# 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\-F15 | T8993G\-F15\-I2 | Uninf | F | N | N | A | ND | 76% | / | / | / | Healthy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F15 | T8993G\-F15\-II2 | Fam | F | Y | Y | ND | 3mo | / | 95% | / | 95%(F); 95%(MUSCLECULTURE); 95%(PERIPHERALNERVE); 95%(BRAIN) | Leigh syndrome; developmental delay; hypotonia; ophthalmoparesis; seizures; respiratory impairment |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F15 | T8993G\-F15\-II1 | Fam | F | Y | Y | D | 6\.5mo | 90% | / | / | / | Leigh syndrome; developmental delay; hypotonia; ophthalmoparesis; seizures; respiratory impairment |  |

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