G12236A-F1

**Figure 1\. Pedigree diagram for family G12236A\-F1\.**

![](/media/202606/20260622173805684747.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12236 | m.12236G\>A | G12236A\-F1 | France | Deafness | 2 | 5 | 2007 | [17637808](https://pubmed.ncbi.nlm.nih.gov/17637808/) |  |

The **m.12236G\>A** variant in MT\-TS2 was reported in family G12236A\-F1 from France with deafness. The pedigree record reported 2 unaffected and 5 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in all listed carriers; 6/8 carriers were affected, and the main clinical manifestation among affected carriers was deafness.

# 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 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Deafness |  |
| 2 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness |  |
| 3 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-II3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness |  |
| 4 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-II4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness |  |
| 5 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-II5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 6 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-II6 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness |  |
| 7 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-III1 | Fam | F | Y | Y | A | ND | Homo | / | / | / | Deafness |  |
| 8 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-III2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

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