G12293A-F1

**Figure 1\. Pedigree diagram for family G12293A\-F1\.**

![](/media/202606/20260625141925607757.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 | 12293 | m.12293G\>A | G12293A\-F1 | USA | Rapidly progressive adult\-onset scoliosis | ND | ND | 2014 | [25223649](https://pubmed.ncbi.nlm.nih.gov/25223649/) | Carrying multiple mtDNA deletions |

The **m.12293G\>A** variant in MT\-TL2 was reported in family G12293A\-F1 from USA with rapidly progressive adult\-onset scoliosis. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was rapidly progressive adult\-onset scoliosis, stable scoliosis.

# 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 | 12293 | m.12293G\>A | G12293A\-F1 | G12293A\-F1\-II2 | Uninf | F | Y | Y | A | 69 | 0% | 40\.9% | / | / | Rapidly progressive adult\-onset scoliosis | Carrying multiple mtDNA deletions |
| 2 | 12293 | m.12293G\>A | G12293A\-F1 | G12293A\-F1\-III1 | Fam | M | N | Y | A | 37 | 0% | / | / | / | Stable scoliosis |  |

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