A3243G-F579

**Figure 1\. Pedigree diagram for family A3243G\-F579\.**

![](/media/202607/A3243G-F579-pedigree_20260701031739489338.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\-F579 | USA | MELAS syndrome; mitochondrial replacement therapy carrier family | 10 | 14 | 2016 | [27919073](https://pubmed.ncbi.nlm.nih.gov/27919073/) | Family 5 A3243G MELAS pedigree; G/H includes G/H\-only NT/open relatives, while oocytes, embryos and ES cell lines are excluded. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F579 from USA with melas syndrome; mitochondrial replacement therapy carrier family. The pedigree record reported 10 unaffected and 14 affected maternal relatives, and the carrier table includes 21 listed carriers. Homoplasmy was reported in 0/21 listed carriers; 7/21 carriers were affected, and the main clinical manifestation among affected carriers was symptomatic, melas, mitochondrial encephalomyopathy, lactic acidosis and stroke\-like episodes.

# 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\-F579 | A3243G\-F579\-P1 | Fam | M | N | Y | A | 53 | \<50% | / | 47% | / | Symptomatic | Included from Extended Data Fig. 1b; maternal child of inferred 57y source; Symptomatic A3243G carrier in Extended Data Fig. 1b |
| 2 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P2 | Fam | F | N | Y | A | 49 | \<50% | / | 91% | / | Symptomatic | Mother of 24y, 22y and 17y carriers; Symptomatic A3243G carrier in Extended Data Fig. 1b |
| 3 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P3 | Fam | F | N | Y | A | 38 | \>50% | / | 21% | / | Symptomatic | Mother of 19y male, 16y male and 11y female carriers; Symptomatic A3243G carrier in Extended Data Fig. 1b |
| 4 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P4 | Fam | M | N | ND | A | 19 | \>50% | / | 35% | / | ND | Included from figure load and symptom symbol; Symptomatic child of 38y female in Extended Data Fig. 1b |
| 5 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P5 | Fam | M | N | ND | A | 16 | \<50% | / | 36% | / | ND | Included from figure load and symptom symbol; Symptomatic child of 38y female in Extended Data Fig. 1b |
| 6 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P6 | Fam | F | N | N | A | 11 | \>50% | / | 39% | / | No target clinical symptom shading in Extended Data Fig. 1b. | Child of 38y female; carrier row and G count; No target clinical symptom shading in Extended Data Fig. 1b |
| 7 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P7 | Fam | F | N | Y | A | 36 | 50% | / | 33% | / | Symptomatic | Mother of one NT G/H\-only child and three tested carrier children; Symptomatic A3243G carrier in Extended Data Fig. 1b |
| 8 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P8 | Fam | F | N | ND | A | 16 | 50% | / | 36% | / | ND | Included from figure load and symptom symbol; Symptomatic child of 36y female in Extended Data Fig. 1b |
| 9 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P9 | Fam | F | N | ND | A | 7 | 50% | / | / | / | ND | Only a blood value is legible/reported for this child in the packet figure; Symptomatic child of 36y female in Extended Data Fig. 1b |
| 10 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P10 | Fam | F | N | ND | A | 5 | \>10% | / | / | / | ND | Only a blood value is legible/reported for this child in the packet figure; Symptomatic child of 36y female in Extended Data Fig. 1b |
| 11 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P11 | Fam | F | N | Y | A | 32 | 14% | / | 35% | 47%(F) | Symptomatic | Fig.1a/text gives 14% blood, 47% skin fibroblast and 35% urine for cED4; Extended Data Fig.1b supplies the wider pedigree/G\-H context; A3243G carrier selected for mitochondrial replacement; Extended Data Fig. 1b shows symptom shading |
| 12 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P12 | Fam | F | N | ND | A | 6 | 50% | / | 31% | / | ND | Main Fig.1a cED4 branch; figure shows female 6y child with B 50% and U 31%; Child of cED4; inherited A3243G; no diagnosed mitochondrial disease symbol in Fig. 1a |
| 13 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P13 | Fam | M | N | ND | A | 12 | \>10% | / | / | / | ND | Main Fig.1a cED4 branch; figure shows male 12y child with B \>10%; urine/skin not reported; Child of cED4; inherited A3243G; no diagnosed mitochondrial disease symbol in Fig. 1a |
| 14 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P14 | Fam | F | N | ND | A | 16 | 5% | / | 98% | 6%(SF) | ND | Main Fig.1a cED4 branch; figure/text show female 16y child with B 5%, SF 6%, U 98%; Child of cED4; inherited A3243G; no diagnosed mitochondrial disease symbol in Fig. 1a |
| 15 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P15 | Fam | F | N | Y | A | 29 | \>50% | / | 22% | / | Symptomatic | Mother of two tested carrier children and one NT G/H\-only child; Symptomatic A3243G carrier in Extended Data Fig. 1b |
| 16 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P16 | Fam | F | N | N | A | 12 | \>50% | / | 22% | / | No target clinical symptom shading in Extended Data Fig. 1b. | Child of 29y female; carrier row and G count; No target clinical symptom shading in Extended Data Fig. 1b |
| 17 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P17 | Fam | F | N | N | A | 10 | \<40% | / | 90% | / | No target clinical symptom shading in Extended Data Fig. 1b. | Child of 29y female; carrier row and G count; No target clinical symptom shading in Extended Data Fig. 1b |
| 18 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P18 | Fam | F | Y | Y | A | 23 | \>50% | / | 9% | / | MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke\-like episodes | Starred first MELAS patient in Extended Data Fig.1b; explicit proband subtracted from H; figure shows blood \>50% and urine 9%; first clinically diagnosed patient in pedigree |
| 19 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P19 | Fam | M | N | N | A | 24 | 50% | / | 39% | / | No target clinical symptom shading in Extended Data Fig. 1b. | Child of 49y female; carrier row and G count; No target clinical symptom shading in Extended Data Fig. 1b |
| 20 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P20 | Fam | F | N | ND | A | 22 | \>50% | / | 30% | / | ND | Included from figure load and symptom symbol; Symptomatic child of 49y female in Extended Data Fig. 1b |
| 21 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P21 | Fam | M | N | ND | A | 17 | \>50% | / | 36% | / | ND | Included from figure load and symptom symbol; Symptomatic child of 49y female in Extended Data Fig. 1b |

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