A3243G-F320

**Figure 1\. Pedigree diagram for family A3243G\-F320\.**

![](/media/202607/A3243G-F320-pedigree_20260701030533012841.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\-F320 | United States | MELAS/mtDNA disease with maternal family history | 2 | 5 | 2001 | [11700163](https://pubmed.ncbi.nlm.nih.gov/11700163/) | Figure pedigree; only the proband and two shaded siblings are carrier rows. Other counted relatives are G/H\-only. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F320 from United States with melas/mtdna disease with maternal family history. The pedigree record reported 2 unaffected and 5 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was psychosis, seizures, sensorineural hearing loss, wide\-based gait, diffuse muscle weakness, loss of reflexes, mild intention tremor, melas.

# 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\-F320 | A3243G\-F320\-P1 | Fam | M | Y | Y | A | 36 | 17% | / | / | / | Psychosis, seizures, sensorineural hearing loss, wide\-based gait, diffuse muscle weakness, loss of reflexes, mild intention tremor, MELAS/mtDNA disease | Arrowed proband; leukocyte A3243G 17%; complex I defect and abnormal exercise/lactate testing. |
| 2 | 3243 | m.3243A\>G | A3243G\-F320 | A3243G\-F320\-P2 | Fam | M | N | Y | A | ND | / | / | / | / | Diabetes mellitus, hearing loss, seizures | Shaded male sibling in pedigree; no exact A3243G tissue or load reported; confirmed mitochondrial DNA disease by history of genetic testing in pedigree caption |
| 3 | 3243 | m.3243A\>G | A3243G\-F320 | A3243G\-F320\-P3 | Fam | F | N | Y | A | ND | / | / | / | / | Diabetes mellitus, hearing loss, seizures | Shaded female sibling in pedigree; no exact A3243G tissue or load reported; confirmed mitochondrial DNA disease by history of genetic testing in pedigree caption |

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