G12207A-F2

**Figure 1\. Pedigree diagram for family G12207A\-F2\.**

![](/media/202606/20260622173720957394.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12207 | m.12207G\>A | G12207A\-F2 | Japan | Deafness, epilepsy, and intellectual disability | 4 | 2 | 2023 | [36967720](https://pubmed.ncbi.nlm.nih.gov/36967720/) |  |

The **m.12207G\>A** variant in MT\-TS2 was reported in family G12207A\-F2 from Japan with deafness, epilepsy, and intellectual disability. The pedigree record reported 4 unaffected and 2 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 3/7 carriers were affected, and the main clinical manifestation among affected carriers was headache, deafness, diabetes mellitus, epilepsy, and intellectual disability.

# 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 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-I4 | Uninf | F | N | Y | A | 40 | / | / | / | / | Headache, deafness, diabetes mellitus |  |
| 2 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-II8 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-II9 | Fam | F | N | Y | A | 13 | 13\.8% | / | 29\.4% | 22\.1% (BM) | Deafness, epilepsy, and intellectual disability |  |
| 4 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-III6 | Fam | M | Y | Y | A | 10 | 31\.3% | / | 73\.9% | 52\.6% (BM) | Deafness, epilepsy, and intellectual disability |  |
| 5 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-III7 | Fam | F | N | N | A | 13 | / | / | / | / | Healthy |  |
| 6 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-III8 | Fam | M | N | N | A | 5 | / | / | / | / | Healthy |  |
| 7 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-III9 | Fam | M | N | N | A | 3 | / | / | / | / | Healthy |  |

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