G14459A-F9

**Figure 1\. Pedigree diagram for family G14459A\-F9\.**

![](/media/202606/20260630175634343597.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\-F9 | Antigua and Barbuda | LHON plus dystonia | 6 | 4 | 2004 | [14735585](https://pubmed.ncbi.nlm.nih.gov/14735585/) |  |

The **m.14459G\>A** variant in MT\-ND6 was reported in family G14459A\-F9 from Antigua and Barbuda with lhon plus dystonia. The pedigree record reported 6 unaffected and 4 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was acute bulbar, corticospinal dysfunction, stroke, dystonia, spasticity, bilateral putaminal lesions, elevated lactate, hemiparesis.

# 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\-F9 | G14459A\-F9\-III6 | Fam | F | N | N | A | 35 | Homo | / | / | / | Healthy |  |
| 2 | 14459 | m.14459G\>A | G14459A\-F9 | G14459A\-F9\-IV10 | Fam | F | Y | Y | A | 3 | / | Homo | / | / | Acute bulbar/corticospinal dysfunction; stroke/dystonia/spasticity; bilateral putaminal lesions; elevated lactate |  |
| 3 | 14459 | m.14459G\>A | G14459A\-F9 | G14459A\-F9\-IV8 | Fam | M | N | Y | A | 7 | Homo | / | / | / | Hemiparesis, dysarthria, spasticity/dystonia, putaminal MRI lesion; NF1/cognitive delay/ADHD |  |
| 4 | 14459 | m.14459G\>A | G14459A\-F9 | G14459A\-F9\-IV9 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 5 | 14459 | m.14459G\>A | G14459A\-F9 | G14459A\-F9\-IV2 | Fam | F | N | Y | A | 5 | Homo | / | / | / | New onset limp; mild right hemiparesis; bilateral putaminal MRI lesions; lactate doublet on MRS |  |

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