T9176G-F2

**Figure 1\. Pedigree diagram for family T9176G\-F2\.**

![](/media/202607/149499f0e046444590a1e577ea6590584478.png)

| Pedigree diagram for family T9176G-F2 |
| --- |

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9176 | m.9176T\>G | T9176G\-F2 | Japan | Leigh syndrome | 1 | 1 | 2002 | [11731285](https://pubmed.ncbi.nlm.nih.gov/11731285/) |  |

The **m.9176T\>G** variant in MT\-ATP6 was reported in family T9176G\-F2 from Japan with leigh syndrome. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 2/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, developmental delay, convulsions, unable to walk, muscle 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 | 9176 | m.9176T\>G | T9176G\-F2 | T9176G\-F2\-II1 | Fam | F | Y | Y | D | 6y1mo | / | Homo | / | Homo(F) | Leigh syndrome; developmental delay; convulsions; unable to walk |  |
| 2 | 9176 | m.9176T\>G | T9176G\-F2 | T9176G\-F2\-II2 | Fam | M | N | Y | D | 10y7mo | / | Homo | / | / | Leigh syndrome; developmental delay; muscle hypotonia |  |
| 3 | 9176 | m.9176T\>G | T9176G\-F2 | T9176G\-F2\-I2 | Uninf | F | N | N | A | ND | \~50% | / | / | / | Healthy |  |

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