A3243G-F463

**Figure 1\. Pedigree diagram for family A3243G\-F463\.**

![](/media/202607/A3243G-F463-pedigree_20260701031339353703.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\-F463 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patients 3 and 4 are a mother/daughter pair by Table 1 footnote; both are treated as explicit probands, so H\=2\-2\=0\. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F463 from United Kingdom with a3243g\-associated macular dystrophy / midd\-melas spectrum. 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; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was macular dystrophy, non\-specific maculopathy, visual symptoms yes, diabetes no, hearing loss yes.

# 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\-F463 | A3243G\-F463\-P3 | Fam | F | Y | Y | ND | 53 | / | / | / | / | Macular dystrophy; Non\-specific maculopathy; Visual symptoms Yes; Diabetes No; Hearing loss Yes | Patient 3 and Patient 4 are a mother/daughter pair; exact heteroplasmy percent not reported; A3243G; maternal family history hearing loss Yes |
| 2 | 3243 | m.3243A\>G | A3243G\-F463 | A3243G\-F463\-P4 | Fam | F | Y | Y | ND | 47 | / | / | / | / | Macular dystrophy; Non\-specific maculopathy; Visual symptoms Yes; Diabetes No; Hearing loss Yes | Patient 3 and Patient 4 are a mother/daughter pair; exact heteroplasmy percent not reported; A3243G; maternal family history hearing loss Yes |

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