A3252G-F1

**Figure 1\. Pedigree diagram for family A3252G\-F1\.**

![](/media/202607/20260721232002734960.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3252 | m.3252A\>G | A3252G\-F1 | Spain | Migraine, recurrent stroke\-like episodes, photoparoxistic response, epilepsy, exercise intolerance, myopathy, gastro\-intestinal symptoms, hearing loss, decreased vision, cognitive delay, MELAS | 1 | 1 | 2015 | [25765153](https://pubmed.ncbi.nlm.nih.gov/25765153/) |  |

The **m.3252A\>G** variant in MT\-TL1 was reported in family A3252G\-F1 from Spain with migraine, recurrent stroke\-like episodes, photoparoxistic response, epilepsy, exercise intolerance, myopathy, gastro\-intestinal symptoms, hearing loss, decreased vision, cognitive delay, melas. The pedigree record reported 1 unaffected and 1 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 migraine, depression, hypothyroidism, hearing loss, weakness, recurrent stroke\-like episodes, photoparoxistic response, epilepsy.

# 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 | 3252 | m.3252A\>G | A3252G\-F1 | A3252G\-F1\-I2 | Uninf | F | N | Y | A | 46 | / | / | 10% | 5% (BM) | Migraine, depression, hypothyroidism, hearing loss, weakness |  |
| 2 | 3252 | m.3252A\>G | A3252G\-F1 | A3252G\-F1\-II1 | Fam | M | N | N | A | 7 | / | / | / | / | Healthy |  |
| 3 | 3252 | m.3252A\>G | A3252G\-F1 | A3252G\-F1\-II2 | Fam | F | Y | Y | D | 13 | 42% | / | 78% | 48% (BM) | Migraine, recurrent stroke\-like episodes, photoparoxistic response, epilepsy, exercise intolerance, myopathy, gastro\-intestinal symptoms, hearing loss, decreased vision, cognitive delay, MELAS |  |

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