T8993G-F28

**Figure 1\. Pedigree diagram for family T8993G\-F28\.**

![](/media/202607/T8993G-F28-pedigree_20260701000819473268.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\-F28 | Australia | NARP; Leigh syndrome; prenatal diagnosis | 6 | 0 | 1999 | [10590437](https://pubmed.ncbi.nlm.nih.gov/10590437/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F28 from Australia with narp; leigh syndrome; prenatal diagnosis. The pedigree record reported 6 unaffected and 0 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was narp.

# 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\-F28 | T8993G\-F28\-I2 | Uninf | F | N | N | A | ND | 11% | / | / | / | Healthy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F28 | T8993G\-F28\-II1 | Fam | M | Y | Y | A | ND | 79% | / | / | 92%(F) | NARP |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F28 | T8993G\-F28\-II2 | Fam | F | N | N | A | ND | 59% | / | / | / | Healthy |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F28 | T8993G\-F28\-II3 | Fam | F | N | N | A | ND | 7% | / | / | / | Healthy |  |
| 5 | 8993 | m.8993T\>G | T8993G\-F28 | T8993G\-F28\-II5 | Fam | F | N | N | A | ND | 5% | / | / | / | Healthy |  |

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