A5559G-F1

**Figure 1\. Pedigree diagram for family A5559G\-F1\.**

![](/media/202607/A5559G-F1-pedigree_20260701032343723313.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 | 5559 | M.5559A\>G | A5559G\-F1 | Tunisia | Leigh syndrome | ND | ND | 2009 | [19349200](https://pubmed.ncbi.nlm.nih.gov/19349200/) |  |

The **m.5559A\>G** variant in MT\-TW was reported in family A5559G\-F1 from Tunisia with leigh syndrome. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome with psychomotor delay, vomiting, lactate acidosis and caudate, putamen mri lesions.

# 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 | 5559 | M.5559A\>G | A5559G\-F1 | A5559G\-F1\-I2 | Uninf | F | N | N | A | ND | 23% | / | / | / | Healthy |  |
| 2 | 5559 | M.5559A\>G | A5559G\-F1 | A5559G\-F1\-II1 | Fam | F | Y | Y | A | 11 | 43% | / | / | / | Leigh syndrome with psychomotor delay, vomiting, lactate acidosis and caudate/putamen MRI lesions |  |

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