A12397G-F1

**Figure 1\. Pedigree diagram for family A12397G\-F1\.**

![](/media/202607/A12397G-F1-pedigree_20260701012643194087.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 | 12397 | m.12397A\>G | A12397G\-F1 | Italy | parkinsonism | 0 | 1 | 2008 | [18524835](https://pubmed.ncbi.nlm.nih.gov/18524835/) | coexisting PINK1 W437X should be kept in notes.; Italian parkinsonism family; pages 1\-4; Italian family / Italian affiliations |

The **m.12397A\>G** variant in MT\-ND5 was reported in family A12397G\-F1 from Italy with parkinsonism. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was early\-onset parkinsonism, homozygous pink1 w437x also present, late\-onset parkinson disease.

# 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 | 12397 | m.12397A\>G | A12397G\-F1 | A12397G\-F1\-II1 | Fam | ND | Y | Y | ND | 22 | Homo | / | / | Homo(F) | early\-onset parkinsonism; homozygous PINK1 W437X also present | blood and fibroblasts homoplasmic; results; Source: patient |
| 2 | 12397 | m.12397A\>G | A12397G\-F1 | A12397G\-F1\-I2 | Fam | F | N | Y | ND | 53 | Homo | / | / | / | late\-onset Parkinson disease | father blood normal for mtDNA mutation; results/key points; Source: mother |

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