T12297C-F3

**Figure 1\. Pedigree diagram for family T12297C\-F3\.**

![](/media/202606/20260625142309570179.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12297 | m.12297T\>C | T12297C\-F3 | USA | Leigh syndrome | 5 | 2 | 2009 | [19062322](https://pubmed.ncbi.nlm.nih.gov/19062322/) | Carrying T14487C |

The **m.12297T\>C** variant in MT\-TL2 was reported in family T12297C\-F3 from USA 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 leigh syndrome.

# 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 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-II5 | Uninf | F | N | N | A | 68 | 99\.9% | / | 99\.9% | 99\.9% (H), 99\.9% (BM) | Healthy | Carrying T14487C |
| 2 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-III3 | Fam | F | N | N | A | 38 | 99\.9% | / | 99\.9% | 99\.9% (H), 99\.9% (BM) | Healthy | Carrying T14487C |
| 3 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-III5 | Fam | M | N | Y | D | 15 | / | / | / | / | Leigh syndrome | Carrying T14487C |
| 4 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-III6 | Fam | F | N | N | A | 35 | 99\.9% | / | 99\.9% | 99\.9% (H), 99\.9% (BM) | Healthy | Carrying T14487C |
| 5 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-III7 | Fam | F | N | Y | D | 13 months | / | / | / | / | Leigh syndrome | Carrying T14487C |
| 6 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-IV4 | Fam | M | N | N | A | 5 | / | / | 99\.9% | 99\.9% (H), 99\.9% (BM) | Healthy | Carrying T14487C |
| 7 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-IV5 | Fam | F | Y | Y | D | 10 months | / | 99\.9% | / | / | Leigh syndrome | Carrying T14487C |
| 8 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-IV8 | Fam | F | N | N | A | 3 | / | / | 99\.9% | 99\.9% (H), 99\.9% (BM) | Healthy | Carrying T14487C |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).