T14487C-F10

**Figure 1\. Pedigree diagram for family T14487C\-F10\.**

![](/media/202606/20260630180827087332.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14487 | m.14487T\>C | T14487C\-F10 | Canada | Leigh syndrome | 5 | 2 | 2008 | [19062322](https://pubmed.ncbi.nlm.nih.gov/19062322/) | Carrying T12297C; Fig. 1 |

The **m.14487T\>C** variant in MT\-ND6 was reported in family T14487C\-F10 from Canada with leigh syndrome. The pedigree record reported 5 unaffected and 2 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 3/8 carriers were affected, and the main clinical manifestation among affected carriers was central hypotonia, developmental delay, high blood lactate, basal ganglia and brainstem mri lesions, progressive hypotonia, spasticity, vision loss, respiratory failure.

# 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 | 14487 | m.14487T\>C | T14487C\-F10 | T14487C\-F10\-IV5 | Fam | F | Y | Y | D | 10 months | / | 99\.8% | / | / | Central hypotonia, developmental delay, high blood lactate, basal ganglia and brainstem MRI lesions, progressive hypotonia/spasticity/vision loss, respiratory failure | Original label IV\-5 |
| 2 | 14487 | m.14487T\>C | T14487C\-F10 | T14487C\-F10\-IV4 | Fam | M | N | N | A | 5 | / | / | 90\.8% | 94\.5% (H); 92\.0% (BM) | Healthy | Original label IV\-4 |
| 3 | 14487 | m.14487T\>C | T14487C\-F10 | T14487C\-F10\-II5 | Fam | F | N | N | A | 68 | 37\.5% | / | 82\.7% | 82\.4% (H); 62\.8% (BM) | Healthy | Original label II\-5 |
| 4 | 14487 | m.14487T\>C | T14487C\-F10 | T14487C\-F10\-III3 | Fam | F | N | N | A | 38 | 43\.2% | / | 69\.4% | 73\.1% (H); 67\.5% (BM) | No significant cardiomyopathy signs reported; no Leigh phenotype reported | Original label III\-3 |
| 5 | 14487 | m.14487T\>C | T14487C\-F10 | T14487C\-F10\-III6 | Fam | F | N | N | A | 35 | 40\.2% | / | 56\.4% | 22\.3% (H); 54\.3% (BM) | No significant cardiomyopathy signs reported; no Leigh phenotype reported | Original label III\-6 |
| 6 | 14487 | m.14487T\>C | T14487C\-F10 | T14487C\-F10\-IV8 | Fam | F | N | N | A | 3 | / | / | 16\.9% | 13\.8% (H); 15\.6% (BM) | No Leigh phenotype reported in text | Original label IV\-8 |
| 7 | 14487 | m.14487T\>C | T14487C\-F10 | T14487C\-F10\-III7 | Fam | F | N | Y | D | 13 months | / | / | / | / | Nystagmus, lethargy, developmental arrest, seizures, progressive hypotonia, truncal ataxia, CT brain lesions, increased urine lactate, Leigh syndrome |  |
| 8 | 14487 | m.14487T\>C | T14487C\-F10 | T14487C\-F10\-III5 | Fam | M | N | Y | D | 15 years | / | / | / | / | Developmental regression and hypotonia at 10 months, seizures, lethargy, vision loss, profound developmental delay, Leigh syndrome |  |

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