A3243G-F534

**Figure 1\. Pedigree diagram for family A3243G\-F534\.**

![](/media/202607/A3243G-F534-pedigree_20260701031603023923.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\-F534 | France | MELAS reproductive risk and PGD for m.3243A\>G | 1 | 0 | 2011 | [21473984](https://pubmed.ncbi.nlm.nih.gov/21473984/) | Couple 1 A3243G PGD family; prior terminated fetuses retained as human fetal carrier rows. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F534 from France with melas reproductive risk and pgd for m.3243a\>g. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was melas, encephalopathy with stroke\-like episodes, seizures and ataxia.

# 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\-F534 | A3243G\-F534\-P1 | Fam | F | N | N | A | ND | 25% | / | 25% | 25%(Around) | Healthy | Female partner of couple 1; around 25% in blood, urinary tract and buccal cells; Unaffected A3243G carrier seeking PGD |
| 2 | 3243 | m.3243A\>G | A3243G\-F534 | A3243G\-F534\-P2 | Fam | ND | Y | Y | A | 2 | / | / | / | 60%(ND) | MELAS; Encephalopathy with stroke\-like episodes, seizures and ataxia | Affected second child/proband of couple 1\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F534 | A3243G\-F534\-P3 | Fam | ND | N | ND | D | prenatal | / | / | / | \>60%(ND) | ND | Human fetal carrier row; not an embryo/oocyte research product; Pregnancy terminated for fetal A3243G load above 60%; clinical phenotype not assessable |
| 4 | 3243 | m.3243A\>G | A3243G\-F534 | A3243G\-F534\-P4 | Fam | ND | N | ND | D | prenatal | / | / | / | \>60%(ND) | ND | Human fetal carrier row; not an embryo/oocyte research product; Pregnancy terminated for fetal A3243G load above 60%; clinical phenotype not assessable |

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