A12299C-F1

**Figure 1\. Pedigree diagram for family A12299C\-F1\.**

![](/media/202607/A12299C-F1-pedigree_20260701032206284788.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12299 | m.12299A\>C | A12299C\-F1 | Saudi Arabia | MELAS | 4 | 0 | 2006 | [17092464](https://pubmed.ncbi.nlm.nih.gov/17092464/) |  |

The **m.12299A\>C** variant in MT\-TL2 was reported in family A12299C\-F1 from Saudi Arabia with melas. The pedigree record reported 4 unaffected and 0 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 melas.

# 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 | 12299 | m.12299A\>C | A12299C\-F1 | A12299C\-F1\-Ⅰ1 | Uninf | F | N | N | A | ND | 30% | / | / | / | Healthy |  |
| 2 | 12299 | m.12299A\>C | A12299C\-F1 | A12299C\-F1\-Ⅱ1 | Fam | M | Y | Y | D | 11 | 65% | 80% | / | / | MELAS |  |
| 3 | 12299 | m.12299A\>C | A12299C\-F1 | A12299C\-F1\-Ⅱ2 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 12299 | m.12299A\>C | A12299C\-F1 | A12299C\-F1\-Ⅱ3 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy |  |
| 5 | 12299 | m.12299A\>C | A12299C\-F1 | A12299C\-F1\-Ⅱ4 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy |  |

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