T8993G-F43

**Figure 1\. Pedigree diagram for family T8993G\-F43\.**

![](/media/202607/T8993G-F43-pedigree_20260701001152970317.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\-F43 | USA | NARP; Leigh syndrome; oligosymptomatic carrier | 1 | 2 | 2006 | [16546428](https://pubmed.ncbi.nlm.nih.gov/16546428/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F43 from USA with narp; leigh syndrome; oligosymptomatic carrier. 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 oligosymptomatic, mild speech, articulation delay, normal motor development, regular school with resource help, narp features, failure to thrive, hypotonia.

# 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\-F43 | T8993G\-F43\-II2 | Fam | F | N | N | A | 27 y | 41% | / | / | 42/47%(H); 38%(BM); 40%(F) | No significant illness reported |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F43 | T8993G\-F43\-III1 | Fam | F | N | Y | A | 6 y | 90% | / | / | 60/73%(H); 94%(BM); 95%(F) | Oligosymptomatic; mild speech/articulation delay, normal motor development, regular school with resource help |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F43 | T8993G\-F43\-III2 | Fam | M | Y | Y | A | 4 y | 90% | / | / | 91/91%(H); 90%(BM); 92%(F) | NARP features; failure to thrive, hypotonia, developmental delay, ataxic gait, elevated lactate |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F43 | T8993G\-F43\-III3 | Fam | M | N | Y | A | 2 y | 95% | / | / | 95/97%(H); 95%(BM); 95%(F) | Leigh syndrome; hypotonia, regression, seizures, abnormal basal ganglia/brainstem MRI, lactic acidemia |  |

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