T9478C-F1

**Figure 1\. Pedigree diagram for family T9478C\-F1\.**

![](/media/202606/d21003e451824783b92ae052d93af3191785.png)
# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9478 | m.9478T\>C | T9478C\-F1 | Tunisia | Leigh syndrome | 6 | 1 | 2011 | [20525945](https://pubmed.ncbi.nlm.nih.gov/20525945/) |  |

The **m.9478T\>C** variant in MT\-CO3 was reported in family T9478C\-F1 from Tunisia with leigh syndrome. The pedigree record reported 6 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, childhood visual loss, nystagmus, dystonic choreoathetosis, spastic paraplegia, vertical ophthalmoplegia, distal amyotrophia, pes cavus.

# 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 | 9478 | m.9478T\>C | T9478C\-F1 | T9478C\-F1\-IV1 | Fam | M | Y | Y | A | 43 | 89% | / | / | 95%(BM); 4%(H) | Leigh syndrome; childhood visual loss/nystagmus, dystonic choreoathetosis, spastic paraplegia, vertical ophthalmoplegia, distal amyotrophia, pes cavus |  |
| 2 | 9478 | m.9478T\>C | T9478C\-F1 | T9478C\-F1\-IV2 | Fam | F | N | Y | A | 26 | 88% | / | / | 91%(BM); 0%(H) | Leigh syndrome; visual loss/nystagmus, mental retardation, choreic movements, head tremor, spastic paraplegia, distal amyotrophia, pes cavus |  |
| 3 | 9478 | m.9478T\>C | T9478C\-F1 | T9478C\-F1\-III1 | Fam | F | N | N | A | ND | 85% | / | / | 87%(BM); 0%(H) | Healthy/asymptomatic mother |  |
| 4 | 9478 | m.9478T\>C | T9478C\-F1 | T9478C\-F1\-IV3 | Fam | M | N | N | A | ND | 62% | / | / | BM ND; H ND | Healthy/asymptomatic brother |  |

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