A3243G-F271

**Figure 1\. Pedigree diagram for family A3243G\-F271\.**

![](/media/202607/A3243G-F271-pedigree_20260701030323344104.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\-F271 | United Kingdom | MIDD; pigmentary retinal dystrophy | 0 | 1 | 1999 | [10366077](https://pubmed.ncbi.nlm.nih.gov/10366077/) | Pedigree 4; includes proband 4\-1, sister 4\-2, and two A3243G\-positive non\-participating relatives of 4\-2\. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F271 from United Kingdom with midd; pigmentary retinal dystrophy. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was impaired glucose tolerance, deafness onset 30, perimacular speckled pigmentation, non\-diabetic, deafness onset 39, visual loss, night vision, macular pigment epithelial changes.

# 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\-F271 | A3243G\-F271\-P1 | Fam | M | Y | Y | ND | 44 | / | / | / | / | Impaired glucose tolerance, deafness onset 30, perimacular speckled pigmentation | Subject 4\-1; family proband. |
| 2 | 3243 | m.3243A\>G | A3243G\-F271 | A3243G\-F271\-P2 | Fam | F | N | Y | ND | 43 | / | / | / | / | Non\-diabetic, deafness onset 39, visual loss/night vision, macular pigment epithelial changes | Subject 4\-2; Affected\=Y because hearing/visual phenotype is reported despite no diabetes; Sister of 4\-1 |
| 3 | 3243 | m.3243A\>G | A3243G\-F271 | A3243G\-F271\-P3 | Fam | F | N | ND | ND | ND | / | / | / | / | ND | Non\-participating A3243G\-positive relative; phenotype not reported, so Affected\=ND; A3243G\-positive sister of 4\-2; did not participate in full examination |
| 4 | 3243 | m.3243A\>G | A3243G\-F271 | A3243G\-F271\-P4 | Fam | F | N | ND | ND | ND | / | / | / | / | ND | Non\-participating A3243G\-positive relative; phenotype not reported, so Affected\=ND; A3243G\-positive daughter of 4\-2; did not participate in full examination |

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