A3243G-F174

**Figure 1\. Pedigree diagram for family A3243G\-F174\.**

![](/media/202607/A3243G-F174-pedigree_20260701025825940114.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 | 3243 | m.3243A\>G | A3243G\-F174 | Italy | MERRF syndrome caused by A3243G | 0 | 3 | 1996 | [8676159](https://pubmed.ncbi.nlm.nih.gov/8676159/) | Figure 1 pedigree. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F174 from Italy with merrf syndrome caused by a3243g. The pedigree record reported 0 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was hyperthyroidism, retinopathy and macular epithelial degeneration, multinodular euthyroid goitre, cervical lipoma, basal ganglia calcifications and brain atrophy, rrf in muscle, merrf\-like syndrome with seizures, myoclonus.

# 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 | 3243 | m.3243A\>G | A3243G\-F174 | A3243G\-F174\-I1 | Uninf | F | N | Y | A | 65 | 5% | / | / | / | Hyperthyroidism, retinopathy and macular epithelial degeneration | / |
| 2 | 3243 | m.3243A\>G | A3243G\-F174 | A3243G\-F174\-II1 | Fam | F | N | Y | A | 43 | 20% | 70% | / | / | Multinodular euthyroid goitre, cervical lipoma, basal ganglia calcifications and brain atrophy; RRF in muscle | Treated with thyroxine. |
| 3 | 3243 | m.3243A\>G | A3243G\-F174 | A3243G\-F174\-III1 | Fam | M | Y | Y | A | 18 | 30% | 78% | / | / | MERRF\-like syndrome with seizures, myoclonus, ataxia, mental deterioration, optic atrophy, neural deafness and cervical lipoma | Proband. |
| 4 | 3243 | m.3243A\>G | A3243G\-F174 | A3243G\-F174\-III2 | Fam | F | N | Y | A | 14 | / | / | / | / | Headache and nasal speech | / |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).