T8993G-F23

**Figure 1\. Pedigree diagram for family T8993G\-F23\.**

![](/media/202607/T8993G-F23-pedigree_20260701000744120907.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\-F23 | France | Maternally inherited Leigh syndrome; NARP syndrome | 5 | 3 | 1995 | [8750605](https://pubmed.ncbi.nlm.nih.gov/8750605/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F23 from France with maternally inherited leigh syndrome; narp syndrome. The pedigree record reported 5 unaffected and 3 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 2/7 carriers were affected, and the main clinical manifestation among affected carriers was mental retardation, ataxia, dysarthria, dystonia, pes cavus, retinal degeneration, apneic episodes, leigh syndrome.

# 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\-F23 | T8993G\-F23\-I2 | Uninf | F | N | N | A | ND | 84% | / | / | 98%(F) | Healthy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F23 | T8993G\-F23\-II4 | Fam | F | N | Y | A | ND | 99% | / | / | / | Mental retardation; ataxia; dysarthria; dystonia; pes cavus; retinal degeneration; apneic episodes |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F23 | T8993G\-F23\-II5 | Fam | F | N | N | A | ND | 63% | / | / | 80%(F) | Healthy |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F23 | T8993G\-F23\-II6 | Fam | F | N | N | A | ND | 91% | / | / | 86%(F) | Healthy |  |
| 5 | 8993 | m.8993T\>G | T8993G\-F23 | T8993G\-F23\-II7 | Fam | F | Y | Y | D | 9 | / | 100% | / | / | Leigh syndrome; hypotonia; developmental delay; ataxia; myopathic weakness; retinitis; deafness; seizures |  |
| 6 | 8993 | m.8993T\>G | T8993G\-F23 | T8993G\-F23\-II8 | Fam | M | N | N | A | ND | 45% | / | / | 65%(F) | Healthy |  |
| 7 | 8993 | m.8993T\>G | T8993G\-F23 | T8993G\-F23\-II10 | Fam | M | N | N | A | ND | 98% | / | / | 98%(F) | Healthy |  |

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