T8993C-F7

**Figure 1\. Pedigree diagram for family T8993C\-F7\.**

![](/media/202606/T8993C-F7-pedigree_20260630235649091822.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\>C | T8993C\-F7 | Vietnam | Leigh syndrome | 5 | 0 | 2018 | [29512743](https://pubmed.ncbi.nlm.nih.gov/29512743/) |  |

The **m.8993T\>C** variant in MT\-ATP6 was reported in family T8993C\-F7 from Vietnam with leigh syndrome. The pedigree record reported 5 unaffected and 0 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 1/6 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, epilepsy, hypotonia, vomiting, abnormal brain mri.

# 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\>C | T8993C\-F7 | T8993C\-F7\-III1 | Fam | M | Y | Y | D | 21mo | 94% | / | / | / | Leigh syndrome; epilepsy; hypotonia; vomiting; abnormal brain MRI |  |
| 2 | 8993 | m.8993T\>C | T8993C\-F7 | T8993C\-F7\-II2 | Fam | F | N | N | A | 32 | 71\.66% | / | / | / | Healthy |  |
| 3 | 8993 | m.8993T\>C | T8993C\-F7 | T8993C\-F7\-II3 | Fam | F | N | N | A | ND | 66\.81% | / | / | / | Healthy |  |
| 4 | 8993 | m.8993T\>C | T8993C\-F7 | T8993C\-F7\-III2 | Fam | M | N | N | A | ND | 87% | / | / | / | Healthy |  |
| 5 | 8993 | m.8993T\>C | T8993C\-F7 | T8993C\-F7\-III3 | Fam | F | N | N | A | ND | 91\.24% | / | / | / | Healthy |  |
| 6 | 8993 | m.8993T\>C | T8993C\-F7 | T8993C\-F7\-I2 | Uninf | F | N | N | A | ND | 16\.33% | / | / | / | Healthy |  |

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