A3243G-F53

**Figure 1\. Pedigree diagram for family A3243G\-F53\.**

![](/media/202607/A3243G-F53-pedigree_20260701031545846362.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\-F53 | USA | MELAS | 6 | 5 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Fig.2 pedigree E; includes positive, eligible negative\-tested, and untested children from target\-positive mothers. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F53 from USA with melas. The pedigree record reported 6 unaffected and 5 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in 0/12 listed carriers; 6/12 carriers were affected, and the main clinical manifestation among affected carriers was oligosymptomatic relative, melas, oligosymptomatic shaded\-symbol child.

# 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\-F53 | A3243G\-F53\-P1 | Fam | F | N | Y | ND | 69 | 14% | 62% | / | / | Oligosymptomatic relative | Fig.2/Table2 patient29; Fig.2 muscle label appears close to 57%, Table2 gives 62%. |
| 2 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P2 | Fam | F | Y | Y | ND | 46 | 43% | 87% | / | / | MELAS | Table1 patient20; Fig.2 E\-III1\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P3 | Fam | M | N | Y | ND | ND | / | / | / | / | Oligosymptomatic shaded\-symbol child | No molecular testing in child; included because mother E\-II2 has confirmed mutation load and child phenotype is explicitly shown in Fig.2\. |
| 4 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P4 | Fam | M | N | N | ND | 38 | 0 | / | / | / | Healthy | Fig.2/Table2 patient45; son of patient29 and half\-brother of patient20; blood not detected; Asymptomatic relative |
| 5 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P5 | Fam | M | N | N | ND | ND | 0 | / | / | / | Healthy | Fig.2 child of target\-positive mother E\-III1; B\=ND; Unaffected/open\-symbol child |
| 6 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P6 | Fam | F | N | N | ND | ND | 0 | / | / | / | Healthy | Fig.2 child of target\-positive mother E\-III1; B\=ND; Unaffected/open\-symbol child |
| 7 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P7 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother E\-III1 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 8 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P8 | Fam | F | N | Y | ND | 59 | 28% | 72% | / | / | Oligosymptomatic relative | Fig.2/Table2 patient31\. |
| 9 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P9 | Fam | M | N | Y | ND | 38 | 22% | / | / | / | Oligosymptomatic relative | Fig.2/Table2 patient32\. |
| 10 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P10 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother E\-II6 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 11 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P11 | Fam | M | N | N | ND | 31 | 17% | 28% | / | / | Healthy | Fig.2/Table2 patient44; Asymptomatic relative |
| 12 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P12 | Fam | F | N | Y | ND | 32 | 28% | 65% | / | / | Oligosymptomatic relative | Fig.2/Table2 patient30\. |

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