G3697A-F5

**Figure 1\. Pedigree diagram for family G3697A\-F5\.**

![](/media/202606/20260630033705861055.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\-F5 | Netherlands | LHON / spastic dystonia | 1 | 1 | 2007 | [17562939](https://pubmed.ncbi.nlm.nih.gov/17562939/) | Haplogroup T. |

The **m.3697G\>A** variant in MT\-ND1 was reported in family G3697A\-F5 from Netherlands with lhon / spastic dystonia. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was spastic dystonia, mental retardation, putamen hyperintensities, lhon.

# 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\-F5 | G3697A\-F5\-I1 | Uninf | F | N | N | A | ND | 19% | 0% | / | / | Healthy |  |
| 2 | 3697 | m.3697G\>A | G3697A\-F5 | G3697A\-F5\-II1 | Fam | M | N | Y | A | 34 | 88% | 0% | / | / | Spastic dystonia, mental retardation, putamen hyperintensities |  |
| 3 | 3697 | m.3697G\>A | G3697A\-F5 | G3697A\-F5\-II2 | Fam | F | Y | Y | A | 35 | 56% | \>97% | / | / | LHON | Two healthy children aged 2 and 4 were reported but not tested. |

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