T8993G-F7

**Figure 1\. Pedigree diagram for family T8993G\-F7\.**

![](/media/202607/d8dc36484d244054b35d4ca09456680a4639.png)

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# 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\-F7 | United States | Leigh syndrome | 3 | 1 | 1993 | [8250532](https://pubmed.ncbi.nlm.nih.gov/8250532/) | case \#1 |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F7 from United States with leigh syndrome. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, developmental delay, hypotonia, seizures, peripheral neuropathy, cardiac, respiratory impairment.

# 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\-F7 | T8993G\-F7\-I2 | Uninf | F | N | N | A | 23 | 53% | / | / | / | proximal weakness/depression noted |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F7 | T8993G\-F7\-II3 | Fam | M | Y | Y | D | 3mo | / | 93% | / | 92%(F) | Leigh syndrome; developmental delay; hypotonia; seizures; peripheral neuropathy; cardiac/respiratory impairment |  |

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