T8993G-F1

**Figure 1\. Pedigree diagram for family T8993G\-F1\.**

![](/media/202606/T8993G-F1-pedigree_20260630235722746295.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\-F1 | United Kingdom | NARP; Leigh encephalopathy; developmental delay; retinitis pigmentosa | 6 | 6 | 1994 | [7529982](https://pubmed.ncbi.nlm.nih.gov/7529982/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F1 from United Kingdom with narp; leigh encephalopathy; developmental delay; retinitis pigmentosa. The pedigree record reported 6 unaffected and 6 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 6/6 carriers were affected, and the main clinical manifestation among affected carriers was retinitis pigmentosa, mild sensory axonal neuropathy, learning difficulties, poor coordination, dysarthria, early peripheral retinal pigmentation, developmental delay, hypotonia.

# 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\-F1 | T8993G\-F1\-II2 | Fam | F | N | Y | A | 39 | 78% | / | / | / | Retinitis pigmentosa; mild sensory axonal neuropathy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F1 | T8993G\-F1\-III2 | Fam | M | N | Y | A | 14 | 88% | / | / | / | Learning difficulties; poor coordination; dysarthria; early peripheral retinal pigmentation |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F1 | T8993G\-F1\-III4 | Fam | M | N | Y | A | 9 | 86% | / | / | / | Developmental delay; hypotonia; drowsiness; falls; speech delay; spastic\-ataxic dysarthria |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F1 | T8993G\-F1\-III5 | Fam | M | N | Y | A | 11 | 87% | / | / | / | Mild clumsiness; slow immature speech |  |
| 5 | 8993 | m.8993T\>G | T8993G\-F1 | T8993G\-F1\-III6 | Fam | F | N | Y | A | 6 | 93% | / | / | / | Infantile hypotonia; delayed motor skills; poor vision; speech delay; dysarthria |  |
| 6 | 8993 | m.8993T\>G | T8993G\-F1 | T8993G\-F1\-III7 | Fam | F | N | Y | A | 4\.5 | 93% | / | / | / | Hypotonia; episodic drowsiness; speech delay; mild metabolic acidosis |  |

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