T14487C-F8

**Figure 1\. Pedigree diagram for family T14487C\-F8\.**

![](/media/202606/20260630180821230892.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\-F8 | Italy | Leigh syndrome | 0 | 0 | 2007 | [17535832](https://pubmed.ncbi.nlm.nih.gov/17535832/) |  |

The **m.14487T\>C** variant in MT\-ND6 was reported in family T14487C\-F8 from Italy with leigh syndrome. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, developmental delay, regression, hypotonia, eye movement incoordination, drooling, dysphagia, focal epileptic fits.

# 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\-F8 | T14487C\-F8\-II1 | Fam | M | Y | Y | A | 10 mo | / | \>95% | / | 85% (F) | Leigh syndrome; developmental delay/regression; hypotonia; eye movement incoordination; drooling; dysphagia; focal epileptic fits; lactic acidosis; basal ganglia/thalamic/brainstem lesions; dilating cardiomyopathy; optic disk pallor | Original label P3 |
| 2 | 14487 | m.14487T\>C | T14487C\-F8 | T14487C\-F8\-I2 | Fam | F | N | ND | ND | ND | 50% | / | / | / | No clinical features reported |  |

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