G7598A-F1

**Figure 1\. Pedigree diagram for family G7598A\-F1\.**

![](/media/202607/470cb3fbb5af445ebc43117ab81cf6ea9001.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7598 | m.7598G\>A | G7598A\-F1 | Caucasian origin | LHON; optic neuropathy; neurologic symptoms in maternal lineage | 3 | 3 | 2006 | [16418878](https://pubmed.ncbi.nlm.nih.gov/16418878/) |  |

The **m.7598G\>A** variant in MT\-CO2 was reported in family G7598A\-F1 from Caucasian origin with lhon; optic neuropathy; neurologic symptoms in maternal lineage. The pedigree record reported 3 unaffected and 3 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 lhon with bilateral optic neuropathy and severe visual loss, severe migraine headaches, otherwise appeared healthy.

# 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 | 7598 | m.7598G\>A | G7598A\-F1 | G7598A\-F1\-IV2 | Fam | M | Y | Y | A | 26 | 80% | / | / | / | LHON with bilateral optic neuropathy and severe visual loss |  |
| 2 | 7598 | m.7598G\>A | G7598A\-F1 | G7598A\-F1\-III1 | Fam | F | N | N | A | ND | 25% | / | / | / | No pathological eye or neurological signs; mild hyperopia |  |
| 3 | 7598 | m.7598G\>A | G7598A\-F1 | G7598A\-F1\-IV1 | Fam | F | N | Y | A | ND | / | / | / | / | Severe migraine headaches; otherwise appeared healthy |  |

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