T8993G-F5

**Figure 1\. Pedigree diagram for family T8993G\-F5\.**

![](/media/202606/T8993G-F5-pedigree_20260630235812701658.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\-F5 | United States | NARP; retinitis pigmentosa; neurologic manifestations; Leigh disease | 0 | 7 | 1993 | [8240109](https://pubmed.ncbi.nlm.nih.gov/8240109/) | Pedigree A |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F5 from United States with narp; retinitis pigmentosa; neurologic manifestations; leigh disease. The pedigree record reported 0 unaffected and 7 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 7/7 carriers were affected, and the main clinical manifestation among affected carriers was severe retinitis pigmentosa, dementia, seizures, deafness, salt\-and\-pepper retinopathy, migraine, ocular migraine, poor motor coordination.

# 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\-F5 | T8993G\-F5\-II1 | Fam | M | N | Y | A | 44 | 99\.6% | / | / | / | Severe retinitis pigmentosa; dementia; seizures; deafness |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F5 | T8993G\-F5\-II3 | Fam | F | N | Y | A | ND | \+ | / | / | / | Salt\-and\-pepper retinopathy; migraine |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F5 | T8993G\-F5\-III2 | Fam | ND | N | Y | A | ND | \+ | / | / | / | Salt\-and\-pepper retinopathy; migraine |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F5 | T8993G\-F5\-III4 | Fam | ND | N | Y | A | ND | \+ | / | / | / | Ocular migraine |  |
| 5 | 8993 | m.8993T\>G | T8993G\-F5 | T8993G\-F5\-III5 | Fam | ND | N | Y | A | ND | \+ | / | / | / | Migraine |  |
| 6 | 8993 | m.8993T\>G | T8993G\-F5 | T8993G\-F5\-IV2 | Fam | M | N | Y | A | 2\.5 | \+ | / | / | / | Poor motor coordination; delayed speech |  |
| 7 | 8993 | m.8993T\>G | T8993G\-F5 | T8993G\-F5\-IV3 | Fam | M | N | Y | A | 18mo | \+ | / | / | / | Leigh disease; chronic metabolic acidosis |  |

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