T8993G-F50

**Figure 1\. Pedigree diagram for family T8993G\-F50\.**

![](/media/202607/T8993G-F50-pedigree_20260701001416417330.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\-F50 | Tunisia | Leigh syndrome | 6 | 3 | 2009 | [19433277](https://pubmed.ncbi.nlm.nih.gov/19433277/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F50 from Tunisia with leigh syndrome. The pedigree record reported 6 unaffected and 3 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in 0/12 listed carriers; 6/12 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, progressive neurologic syndrome, mild psychomotor delay, slurred speech, high pyruvate blood concentrations, severe psychomotor delay, axial hypotonia, elevated lactic acid and ammonia.

# 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\-F50 | T8993G\-F50\-IV14 | Fam | F | N | N | A | ND | 90% | / | / | / | Healthy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-V1 | Fam | M | Y | Y | A | 22mo | 98% | / | / | / | Leigh syndrome |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-V2 | Fam | F | N | Y | A | ND | / | / | / | / | Progressive neurologic syndrome; mild psychomotor delay; slurred speech; high pyruvate blood concentrations |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-V3 | Fam | F | N | Y | D | 6 y | / | / | / | / | Severe psychomotor delay; axial hypotonia; slurred speech; elevated lactic acid and ammonia; febrile coma; repetitive seizures |  |
| 5 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-IV16 | Fam | F | N | N | A | ND | 96% | / | / | / | Healthy | Carrying T8741G; A8795G; A9024G |
| 6 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-V4 | Fam | F | N | N | A | ND | 44% | / | / | / | Healthy |  |
| 7 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-V5 | Fam | M | Y | Y | A | 15 | 97% | / | / | / | Leigh syndrome; peripheral neuropathy; hypotonia; ataxia |  |
| 8 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-V6 | Fam | M | N | N | A | ND | 49% | / | / | / | Healthy |  |
| 9 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-IV18 | Fam | F | N | N | A | ND | 60% | / | / | / | Healthy |  |
| 10 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-V7 | Fam | F | N | Y | D | 5mo | / | / | / | / | Psychomotor delay; axial and peripheral hypotonia; high lactate and ammonia |  |
| 11 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-V8 | Fam | M | Y | Y | A | 4mo | 94% | / | / | / | Leigh syndrome |  |
| 12 | 8993 | m.8993T\>G | T8993G\-F50 | T8993G\-F50\-V9 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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