T8993G-F26

**Figure 1\. Pedigree diagram for family T8993G\-F26\.**

![](/media/202607/T8993G-F26-pedigree_20260701000801273145.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\-F26 | France | Leigh syndrome; prenatal diagnosis | 5 | 1 | 1997 | [9329425](https://pubmed.ncbi.nlm.nih.gov/9329425/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F26 from France with leigh syndrome; prenatal diagnosis. The pedigree record reported 5 unaffected and 1 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 1/7 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, seizures, hypotonia, dysphagia, lactic acidosis.

# 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\-F26 | T8993G\-F26\-I1 | Uninf | F | N | N | A | ND | 10% | / | / | / | Healthy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F26 | T8993G\-F26\-II1 | Fam | F | N | N | A | 25 | 50% | / | / | / | Healthy |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F26 | T8993G\-F26\-II2 | Fam | F | N | N | A | 24 | 52% | / | / | 84%(F) | Healthy |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F26 | T8993G\-F26\-II4 | Fam | M | N | N | A | ND | 0% |  |  |  | Healthy |  |
| 5 | 8993 | m.8993T\>G | T8993G\-F26 | T8993G\-F26\-II5 | Fam | F | N | N | A | 14 | 0% |  |  |  | Healthy |  |
| 6 | 8993 | m.8993T\>G | T8993G\-F26 | T8993G\-F26\-III2 | Fam | F | Y | Y | D | 14mo | / | / | / | 90%(F) | Leigh syndrome; seizures; hypotonia; dysphagia; lactic acidosis |  |
| 7 | 8993 | m.8993T\>G | T8993G\-F26 | T8993G\-F26\-III1 | Fam | F | N | ND | D | fetus | / | / | / | 96%(CVS); 91%(BONE); 94%(BRAIN); 93%(GASTROINTESTINALTRACT); 95%(Heart); 95%(KIDNEY); 96%(LUNG); 95%(Muscle); 94%(SPINALCORD) | No postnatal phenotype | Pregnancy medically interrupted. |

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