T14487C-F24

**Figure 1\. Pedigree diagram for family T14487C\-F24\.**

![](/media/202606/20260630180840927891.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\-F24 | Italy | Leigh syndrome | 2 | 1 | 2017 | [28122886](https://pubmed.ncbi.nlm.nih.gov/28122886/) |  |

The **m.14487T\>C** variant in MT\-ND6 was reported in family T14487C\-F24 from Italy with leigh syndrome. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, growth delay from 6 mo, psychomotor stagnation, hypotonia, typical brain mri lesions, feeding difficulties, recurrent aspiration pneumonias, tracheostomy.

# 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\-F24 | T14487C\-F24\-IV1 | Fam | M | N | Y | D | 8 y | 99% | \>95% | / | 97% (F) | Leigh syndrome; growth delay from 6 mo; psychomotor stagnation; hypotonia; typical brain MRI lesions; feeding difficulties; recurrent aspiration pneumonias; tracheostomy |  |
| 2 | 14487 | m.14487T\>C | T14487C\-F24 | T14487C\-F24\-III1 | Fam | F | Y | N | A | 39 y | 32% | 55% | 65% | / | Healthy |  |
| 3 | 14487 | m.14487T\>C | T14487C\-F24 | T14487C\-F24\-II1 | Fam | F | N | ND | ND | ND | 5% | / | 10% | / | Phenotype not reported |  |
| 4 | 14487 | m.14487T\>C | T14487C\-F24 | T14487C\-F24\-III2 | Fam | F | N | ND | ND | ND | \<10% | \<10% | 10% | / | Phenotype not reported |  |
| 5 | 14487 | m.14487T\>C | T14487C\-F24 | T14487C\-F24\-IV2 | Fam | M | N | N | A | 7 mo | 5% | / | / | / | Healthy |  |

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