G3697A-F3

**Figure 1\. Pedigree diagram for family G3697A\-F3\.**

![](/media/202606/20260630033616730323.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3697 | m.3697G\>A | G3697A\-F3 | China | Bilateral striatal necrosis | 4 | 6 | 2019 | [30623604](https://pubmed.ncbi.nlm.nih.gov/30623604/) |  |

The **m.3697G\>A** variant in MT\-ND1 was reported in family G3697A\-F3 from China with bilateral striatal necrosis. The pedigree record reported 4 unaffected and 6 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in 6/10 listed carriers; 6/10 carriers were affected, and the main clinical manifestation among affected carriers was right limbs clumsy, putaminal lesion, left limb rigidity, spastic dystonia, bilateral putaminal lesions, moderate cognitive disability, bilateral putaminal and caudate lesions.

# 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 | 3697 | m.3697G\>A | G3697A\-F3 | G3697A\-F3\-II1 | Fam | F | N | Y | A | 50 | Homo | / | / | / | Right limbs clumsy, putaminal lesion |  |
| 2 | 3697 | m.3697G\>A | G3697A\-F3 | G3697A\-F3\-II4 | Fam | F | N | Y | A | 47 | 99\.98% | / | / | / | Left limb rigidity, putaminal lesion |  |
| 3 | 3697 | m.3697G\>A | G3697A\-F3 | G3697A\-F3\-II6 | Fam | F | N | N | A | 44 | Homo | / | / | / | Healthy |  |
| 4 | 3697 | m.3697G\>A | G3697A\-F3 | G3697A\-F3\-III1 | Fam | F | N | N | A | 25 | Homo | / | / | / | Healthy |  |
| 5 | 3697 | m.3697G\>A | G3697A\-F3 | G3697A\-F3\-III2 | Fam | M | N | Y | A | 23 | Homo | / | / | / | Spastic dystonia, bilateral putaminal lesions |  |
| 6 | 3697 | m.3697G\>A | G3697A\-F3 | G3697A\-F3\-III3 | Fam | M | Y | Y | A | 20 | 99\.97% | / | 99\.96% | / | Spastic dystonia, bilateral putaminal lesions, moderate cognitive disability |  |
| 7 | 3697 | m.3697G\>A | G3697A\-F3 | G3697A\-F3\-III4 | Fam | F | N | N | A | 18 | 99\.97% | / | / | / | Healthy |  |
| 8 | 3697 | m.3697G\>A | G3697A\-F3 | G3697A\-F3\-III5 | Fam | M | N | Y | A | 16 | Homo | / | / | / | Spastic dystonia, bilateral putaminal and caudate lesions |  |
| 9 | 3697 | m.3697G\>A | G3697A\-F3 | G3697A\-F3\-III6 | Fam | F | N | N | A | 9 | Homo | / | / | / | Healthy |  |
| 10 | 3697 | m.3697G\>A | G3697A\-F3 | G3697A\-F3\-III7 | Fam | M | N | Y | D | 17 | / | / | / | / | Spastic dystonia, bilateral putaminal lesions | No molecular testing in child; included because mother II6 has confirmed mutation load and child phenotype is explicitly reported. |

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