A3243G-F427

**Figure 1\. Pedigree diagram for family A3243G\-F427\.**

![](/media/202607/A3243G-F427-pedigree_20260701031108410689.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\-F427 | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 1 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family H. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F427 from Finland with children/family members with a3243g mutation; phenotype per source table. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was short stature, prematurity, died at 18 hours.

# 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\-F427 | A3243G\-F427\-II1 | Fam | ND | N | Y | ND | ND | / | 75% | / | / | Short stature | Table 4 Family H II\-1; heteroplasmy source per table footnotes. |
| 2 | 3243 | m.3243A\>G | A3243G\-F427 | A3243G\-F427\-III1 | Fam | ND | N | Y | D | ND | / | / | / | 71%(ND) | Prematurity; Died at 18 hours | Table 4 Family H III\-1; heteroplasmy source per table footnotes. Cardiac muscle obtained at autopsy; died at age 18 hours. |

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