T8993C-F8

**Figure 1\. Pedigree diagram for family T8993C\-F8\.**

![](/media/202606/T8993C-F8-pedigree_20260630235659825539.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\-F8 | USA | Leigh syndrome | 13 | 0 | 1994 | [8190310](https://pubmed.ncbi.nlm.nih.gov/8190310/) |  |

The **m.8993T\>C** variant in MT\-ATP6 was reported in family T8993C\-F8 from USA with leigh syndrome. The pedigree record reported 13 unaffected and 0 affected maternal relatives, and the carrier table includes 15 listed carriers. Homoplasmy was reported in 0/15 listed carriers; 1/15 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, developmental delay, hypotonia, severe ataxia, basal ganglia lesions, respiratory difficulty with ventilator dependence, normal blood lactate and urine organic acids.

# 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\-F8 | T8993C\-F8\-I1 | Uninf | F | N | N | A | ND | 7% | / | / | / | Healthy |  |
| 2 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-II1 | Fam | F | N | N | A | ND | 39% | / | / | / | Healthy |  |
| 3 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-II2 | Fam | F | N | N | A | ND | 52% | / | / | / | Healthy |  |
| 4 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-II3 | Fam | F | N | N | A | ND | 5% | / | / | / | Healthy |  |
| 5 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-II4 | Fam | F | N | N | A | ND | 8% | / | / | / | Healthy |  |
| 6 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-II5 | Fam | F | N | N | A | ND | 2% | / | / | / | Healthy |  |
| 7 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-II6 | Fam | F | N | N | A | ND | 4% | / | / | / | Healthy |  |
| 8 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-III1 | Fam | F | N | N | A | ND | 88% | / | / | / | Normal neurologic exam; unsteadiness and poor endurance |  |
| 9 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-III2 | Fam | F | N | N | A | ND | 25% | / | / | / | Healthy |  |
| 10 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-III3 | Fam | M | N | N | A | ND | 28% | / | / | / | Healthy |  |
| 11 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-III4 | Fam | F | N | N | A | ND | 44% | / | / | / | Healthy |  |
| 12 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-IV1 | Fam | M | Y | Y | A | 5 y | \>90% | \>90% | / | \>90%(F) | Leigh syndrome; developmental delay; hypotonia; severe ataxia; basal ganglia lesions; respiratory difficulty with ventilator dependence; normal blood lactate and urine organic acids |  |
| 13 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-IV2 | Fam | F | N | N | A | ND | 66% | / | / | / | Healthy |  |
| 14 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-IV3 | Fam | M | N | ND | D | ND | / | / | / | 59%(Skin); 59%(LUNG); 59%(Liver) | Miscarried male fetus |  |
| 15 | 8993 | m.8993T\>C | T8993C\-F8 | T8993C\-F8\-IV4 | Fam | M | N | N | A | ND | 90% | / | / | / | Healthy |  |

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