T8993C-F5

**Figure 1\. Pedigree diagram for family T8993C\-F5\.**

![](/media/202606/0b05fd6265934a24b667093c6990fe7b5788.png)
# 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\-F5 | Italian | NARP; MILS\-compatible deceased sibling | 0 | 2 | 2007 | [17568559](https://pubmed.ncbi.nlm.nih.gov/17568559/) |  |

The **m.8993T\>C** variant in MT\-ATP6 was reported in family T8993C\-F5 from Italian with narp; mils\-compatible deceased sibling. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was short stature, mild peripheral neuropathy, narp, visual loss from retinitis pigmentosa, sensorineural deafness, cerebellar ataxia, muscle weakness, mild mental retardation.

# 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\-F5 | T8993C\-F5\-I1 | Uninf | F | N | Y | A | 53 y | 30% | / | / | / | Short stature; mild peripheral neuropathy |  |
| 2 | 8993 | m.8993T\>C | T8993C\-F5 | T8993C\-F5\-II1 | Fam | F | Y | Y | A | 30 y | 94% | / | / | / | NARP; visual loss from retinitis pigmentosa, sensorineural deafness, cerebellar ataxia, muscle weakness, mild mental retardation |  |
| 3 | 8993 | m.8993T\>C | T8993C\-F5 | T8993C\-F5\-II2 | Fam | F | N | Y | D | 3 y | / | / | / | / | Encephalopathic features compatible with Leigh syndrome |  |

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