G13042A-F2

**Figure 1\. Pedigree diagram for family G13042A\-F2\.**

![](/media/202607/G13042A-F2-pedigree_20260701013108537968.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 | 13042 | m.13042G\>A | G13042A\-F2 | Italy | LHON\-like optic neuropathy / ocular phenotype | 8 | 3 | 2006 | [16816025](https://pubmed.ncbi.nlm.nih.gov/16816025/) |  |

The **m.13042G\>A** variant in MT\-ND5 was reported in family G13042A\-F2 from Italy with lhon\-like optic neuropathy / ocular phenotype. The pedigree record reported 8 unaffected and 3 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in 0/10 listed carriers; 5/10 carriers were affected, and the main clinical manifestation among affected carriers was lhon\-like optic neuropathy, migraine, retinopathy and cataract., lhon\-like optic neuropathy., mild maculopathy, cataract, no optic neuropathy reported., cataract..

# 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 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV4 | Fam | F | Y | Y | A | 60 years | 4% | 91% | 39% | / | LHON\-like optic neuropathy, migraine, retinopathy and cataract. |  |
| 2 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV7 | Fam | M | N | Y | A | 56 years | 3% | / | 41% | / | LHON\-like optic neuropathy. |  |
| 3 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV2 | Fam | F | N | Y | A | 64 years | 0% | / | 4% | / | Mild maculopathy/cataract; no optic neuropathy reported. |  |
| 4 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV6 | Fam | M | N | Y | A | 59 years | 3% | / | 43% | / | Mild maculopathy/cataract. |  |
| 5 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV11 | Fam | F | N | Y | A | 54 years | 0% | / | 20% | / | Mild maculopathy/cataract. |  |
| 6 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV14 | Fam | F | N | N | A | ND | 0% | / | 4% | / | Healthy |  |
| 7 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-V5 | Fam | F | N | N | A | ND | 0% | / | 0% | / | Healthy |  |
| 8 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-V6 | Fam | M | N | N | A | ND | 0% | / | 3% | / | Healthy |  |
| 9 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-V12 | Fam | F | N | N | A | ND | 9% | / | 28% | / | Healthy |  |
| 10 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-V13 | Fam | F | N | N | A | ND | 0% | / | 0% | / | Healthy |  |

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