A3243G-F580

**Figure 1\. Pedigree diagram for family A3243G\-F580\.**

![](/media/202607/A3243G-F580-pedigree_20260701031747857170.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\-F580 | Netherlands | Presumably de novo m.3243A\>G mtDNA point mutation | 0 | 0 | 2017 | [27450679](https://pubmed.ncbi.nlm.nih.gov/27450679/) | Table 1 de novo cohort family 16390; daughter is molecularly positive in urine but phenotype is not reported. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F580 from Netherlands with presumably de novo m.3243a\>g mtdna point mutation. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was presumably de novo m.3243a\>g disease.

# 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\-F580 | A3243G\-F580\-P1 | De novo | ND | Y | Y | A | 44 | 12% | / | / | / | Presumably de novo m.3243A\>G disease | Table 1 family 16390 index patient; mother negative in blood and urine; clinical details not reported in table |
| 2 | 3243 | m.3243A\>G | A3243G\-F580 | A3243G\-F580\-P2 | Fam | F | N | ND | ND | ND | / | / | 4% | / | ND | Table 1 reports daughter with m.3243A\>G 4% in urine; no clinical phenotype, age, or additional tissue result reported; Molecularly positive daughter; phenotype not reported |

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