T8993G-F6

**Figure 1\. Pedigree diagram for family T8993G\-F6\.**

![](/media/202606/T8993G-F6-pedigree_20260630235942176881.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\-F6 | United States | NARP; retinitis pigmentosa; neurologic manifestations; Leigh disease | 0 | 4 | 1993 | [8240109](https://pubmed.ncbi.nlm.nih.gov/8240109/) | Pedigree B |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F6 from United States with narp; retinitis pigmentosa; neurologic manifestations; leigh disease. The pedigree record reported 0 unaffected and 4 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was retinal pigmentary degeneration, migraine, fatigability, leigh disease, developmental delay, ataxia, retinal vascular attenuation, rod\-cone dysfunction.

# 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\-F6 | T8993G\-F6\-I1 | Uninf | F | N | Y | A | 41 | \+ | / | / | / | Retinal pigmentary degeneration; migraine; fatigability |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F6 | T8993G\-F6\-II1 | Fam | F | N | Y | D | 2\.5 | \+ | / | / | / | Leigh disease |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F6 | T8993G\-F6\-II2 | Fam | M | N | Y | A | 14 | \+ | / | / | / | Developmental delay; ataxia; retinal vascular attenuation; rod\-cone dysfunction |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F6 | T8993G\-F6\-II3 | Fam | M | N | Y | A | 12 | \+ | / | / | / | Developmental delay; dementia; ataxia |  |
| 5 | 8993 | m.8993T\>G | T8993G\-F6 | T8993G\-F6\-II4 | Fam | F | N | Y | D | 14mo | \+ | / | / | / | Leigh disease |  |

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