G14459A-F27

**Figure 1\. Pedigree diagram for family G14459A\-F27\.**

![](/media/202606/20260630175651070007.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14459 | m.14459G\>A | G14459A\-F27 | China | LHON plus dystonia overlapping MELAS | 1 | 2 | 2021 | [33779865](https://pubmed.ncbi.nlm.nih.gov/33779865/) |  |

The **m.14459G\>A** variant in MT\-ND6 was reported in family G14459A\-F27 from China with lhon plus dystonia overlapping melas. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was visual decline at 15, seizures and dystonia at 18, melas\-like, lhon\-dystonia, basal ganglia and precentral mri lesions, elevated csf lactate, optic atrophy and mild visual disturbance, respiratory distress and death in childhood.

# 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 | 14459 | m.14459G\>A | G14459A\-F27 | G14459A\-F27\-III1 | Fam | F | Y | Y | A | 23 | 39\.1% | 94% | 88\.1% | 80\.8% (BM) | Visual decline at 15; seizures and dystonia at 18; MELAS\-like/LHON\-dystonia; basal ganglia and precentral MRI lesions; elevated CSF lactate | Carrying m.6064A\>T: 97\.7% (B), 96\.6% (U), 100% (BM), 95\.7% (M) |
| 2 | 14459 | m.14459G\>A | G14459A\-F27 | G14459A\-F27\-II5 | Fam | F | N | Y | A | ND | 13\.5% | / | / | / | Optic atrophy and mild visual disturbance | Carrying m.6064A\>T: 93% (B) |
| 3 | 14459 | m.14459G\>A | G14459A\-F27 | G14459A\-F27\-III3 | Fam | M | N | N | A | 8 | 15\.5% | / | / | / | Healthy | Carrying m.6064A\>T: 93% (B) |
| 4 | 14459 | m.14459G\>A | G14459A\-F27 | G14459A\-F27\-III2 | Fam | M | N | Y | D | 4 | / | / | / | / | Respiratory distress and death in childhood |  |

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