T8993G-F54

**Figure 1\. Pedigree diagram for family T8993G\-F54\.**

![](/media/202607/T8993G-F54-pedigree_20260701001452583413.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\-F54 | USA | Leigh syndrome; mitochondrial replacement therapy | 2 | 0 | 2016 | [27919073](https://pubmed.ncbi.nlm.nih.gov/27919073/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F54 from USA with leigh syndrome; mitochondrial replacement therapy. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was 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\-F54 | T8993G\-F54\-II2 | Fam | M | Y | Y | A | 2\.5 | 95% | / | / | 100%(F) | Leigh syndrome |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F54 | T8993G\-F54\-II1 | Fam | F | N | N | A | 1 | 50% | / | / | 62%(F) | Healthy |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F54 | T8993G\-F54\-I2 | Fam | F | N | N | A | 23 | 13% | / | / | 16%(F) | Healthy |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).