T9176C-F2

**Figure 1\. Pedigree diagram for family T9176C\-F2\.**

![](/media/202607/T9176C-F2-pedigree_20260701004308130030.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 | 9176 | m.9176T\>C | T9176C\-F2 | Italy | Adult\-onset Leigh syndrome | 1 | 3 | 2011 | [21819970](https://pubmed.ncbi.nlm.nih.gov/21819970/) |  |

The **m.9176T\>C** variant in MT\-ATP6 was reported in family T9176C\-F2 from Italy with adult\-onset leigh syndrome. The pedigree record reported 1 unaffected and 3 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 adult\-onset leigh syndrome, ptosis, gaze paresis, ataxia, seizures.

# 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 | 9176 | m.9176T\>C | T9176C\-F2 | T9176C\-F2\-III2 | Fam | F | Y | Y | A | 26 | \>99% | \>99% | \>99% | \>99%(BM); \>99%(F); \>99%(Myoblast) | Adult\-onset Leigh syndrome; ptosis; gaze paresis; ataxia; seizures |  |
| 2 | 9176 | m.9176T\>C | T9176C\-F2 | T9176C\-F2\-II2 | Fam | F | N | ND | A | ND | 30\.5% | / | / | / | Mild mental retardation |  |

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