A3243G-F424

**Figure 1\. Pedigree diagram for family A3243G\-F424\.**

![](/media/202607/A3243G-F424-pedigree_20260701031050927077.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\-F424 | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 3 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family A. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F424 from Finland with children/family members with a3243g mutation; phenotype per source table. 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 snhi, short stature, migraine, learning difficulties, delayed maturation, delayed speech development.

# 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\-F424 | A3243G\-F424\-II1 | Fam | ND | N | Y | ND | ND | / | 51% | / | / | SNHI; Short stature | Table 4 Family A II\-1; heteroplasmy source per table footnotes. |
| 2 | 3243 | m.3243A\>G | A3243G\-F424 | A3243G\-F424\-II2 | Fam | ND | N | Y | ND | ND | / | 76% | / | / | Migraine; Learning difficulties; Delayed maturation | Table 4 Family A II\-2; heteroplasmy source per table footnotes. |
| 3 | 3243 | m.3243A\>G | A3243G\-F424 | A3243G\-F424\-II7 | Fam | ND | N | Y | ND | ND | / | 81% | / | / | Short stature | Table 4 Family A II\-7; heteroplasmy source per table footnotes. |
| 4 | 3243 | m.3243A\>G | A3243G\-F424 | A3243G\-F424\-II8 | Fam | ND | N | Y | ND | ND | / | 69% | / | / | Learning difficulties; Delayed speech development | Table 4 Family A II\-8; heteroplasmy source per table footnotes. |

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