T9176G-F1

**Figure 1\. Pedigree diagram for family T9176G\-F1\.**

![](/media/202607/T9176G-F1-pedigree_20260701004542879322.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\>G | T9176G\-F1 | Italy | Leigh syndrome; spinocerebellar syndrome | 13 | 2 | 2001 | [11245730](https://pubmed.ncbi.nlm.nih.gov/11245730/) |  |

The **m.9176T\>G** variant in MT\-ATP6 was reported in family T9176G\-F1 from Italy with leigh syndrome; spinocerebellar syndrome. The pedigree record reported 13 unaffected and 2 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in 0/9 listed carriers; 3/9 carriers were affected, and the main clinical manifestation among affected carriers was severe neurodegenerative disorder, seizures, drug\-resistant epilepsy, ataxia, spastic paraparesis, leigh syndrome, spinocerebellar syndrome.

# 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\-F1 | T9176G\-F1\-IV1 | Fam | F | Y | Y | A | 10 | \>\=95% | \>\=95% | / | \>\=95%(F) | Severe neurodegenerative disorder; seizures; drug\-resistant epilepsy; ataxia; spastic paraparesis |  |
| 2 | 9176 | m.9176T\>G | T9176G\-F1 | T9176G\-F1\-IV2 | Fam | F | N | Y | D | ND | / | / | / | \>\=95%(postmortem tissues) | Leigh syndrome; severe neurodegenerative disorder |  |
| 3 | 9176 | m.9176T\>G | T9176G\-F1 | T9176G\-F1\-III9 | Fam | M | N | Y | A | ND | 70% | / | / | / | Spinocerebellar syndrome |  |
| 4 | 9176 | m.9176T\>G | T9176G\-F1 | T9176G\-F1\-III10 | Fam | F | N | N | A | ND | 50% | / | / | / | Healthy |  |
| 5 | 9176 | m.9176T\>G | T9176G\-F1 | T9176G\-F1\-II1 | Fam | F | N | N | A | ND | 8% | / | / | / | Healthy |  |
| 6 | 9176 | m.9176T\>G | T9176G\-F1 | T9176G\-F1\-II2 | Fam | F | N | N | A | ND | 30% | / | / | / | Healthy |  |
| 7 | 9176 | m.9176T\>G | T9176G\-F1 | T9176G\-F1\-III6 | Fam | M | N | N | A | ND | 43% | / | / | / | Healthy |  |
| 8 | 9176 | m.9176T\>G | T9176G\-F1 | T9176G\-F1\-III7 | Fam | M | N | N | A | ND | 28% | / | / | / | Healthy |  |
| 9 | 9176 | m.9176T\>G | T9176G\-F1 | T9176G\-F1\-III8 | Fam | M | N | N | A | ND | 39% | / | / | / | Healthy |  |

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