T9035C-F2

**Figure 1\. Pedigree diagram for family T9035C\-F2\.**

![](/media/202607/T9035C-F2-pedigree_20260701004138383519.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 | 9035 | m.9035T\>C | T9035C\-F2 | Belgium | severe motor/speech delay, spastic ataxia, epilepsy | 1 | 1 | 2022 | [35159298](https://pubmed.ncbi.nlm.nih.gov/35159298/) |  |

The **m.9035T\>C** variant in MT\-ATP6 was reported in family T9035C\-F2 from Belgium with severe motor/speech delay, spastic ataxia, epilepsy. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was severe motor and speech delay, spastic ataxia, hypotonia, brisk reflexes, extensor plantar responses.

# 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 | 9035 | m.9035T\>C | T9035C\-F2 | T9035C\-F2\-II1 | Fam | M | Y | Y | A | 2 | Homo | / | / | Homo(F) | Severe motor and speech delay; spastic ataxia; hypotonia; brisk reflexes; extensor plantar responses |  |
| 2 | 9035 | m.9035T\>C | T9035C\-F2 | T9035C\-F2\-I2 | Uninf | F | N | N | A | ND | 31% | / | / | / | Healthy |  |

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