T8993G-F55

**Figure 1\. Pedigree diagram for family T8993G\-F55\.**

![](/media/202607/T8993G-F55-pedigree_20260701001511207230.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\-F55 | Mexico | Leigh syndrome; mitochondrial replacement therapy | 2 | 1 | 2017 | [28385334](https://pubmed.ncbi.nlm.nih.gov/28385334/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F55 from Mexico with leigh syndrome; mitochondrial replacement therapy. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 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\-F55 | T8993G\-F55\-III9 | Fam | F | Y | N | A | ND | 24\.50% | / | 33\.65% | 23\.27%(Heart) | Healthy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F55 | T8993G\-F55\-IV12 | Fam | M | N | N | A | birth | / | / | / | 2\.36\-9\.23%(MULTIPLENEONATALTISSUES) | Healthy |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F55 | T8993G\-F55\-IV10 | Fam | F | N | Y | D | 6y | / | / | / | \>95%(TISSUEND) | Leigh syndrome |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F55 | T8993G\-F55\-IV11 | Fam | M | N | Y | D | 6y | / | / | / | \>95%(TISSUEND) | Leigh syndrome |  |

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